All individuals with variants in gene HPRT1

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Remarks: Remarks about the individual.

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

173 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00002043	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002044	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002045	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	1	1	Y Yang
00002046	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002047	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002048	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002049	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	1	1	Y Yang
00002050	Burgemeister R1, Gutensohn W, Van den Berghe G, Jaeken J.(1994)	-	-	LNS	-	1	1	Y Yang
00002051	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002052	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002053	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002054	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	1	1	Y Yang
00002055	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	1	1	Y Yang
00002056	Igarashi T, Minami M, Nishida Y.(1989)	-	-	LNS	-	1	1	Y Yang
00002057	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	1	1	Y Yang
00002058	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	1	1	Y Yang
00002059	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	1	1	Y Yang
00002060	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002061	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002062	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	1	1	Y Yang
00002063	Torres RJ1, Mateos FA, Molano J, Gathoff BS, O'Neill JP, Gundel RM, Trombley L, Puig JG.(2000)	-	-	LNS	-	1	1	Y Yang
00002064	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	1	1	Y Yang
00002065	Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991)	-	-	LNS	-	1	1	Y Yang
00002066	Sculley DG1, Dawson PA, Beacham IR, Emmerson BT, Gordon RB.(1991)	-	-	LNS	-	1	1	Y Yang
00002067	Tohyama J1, Nanba E, Ohno K.(1994)	-	-	LNS	-	1	1	Y Yang
00002068	Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989)	-	-	LNS	-	1	1	Y Yang
00002069	Davidson BL1, Tarlé SA, Palella TD, Kelley WN.(1989)	-	-	LNS	-	1	1	Y Yang
00002070	Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992)	-	-	LNS	-	1	1	Y Yang
00002071	Yamada Y1, Goto H, Suzumori K, Adachi R, Ogasawara N.(1992)	-	-	LNS	-	1	1	Y Yang
00002072	Gathof BS1, Rocchigiani M, Micheli V, Gaigl Z, Gresser U.(1998)	-	-	LNS	-	1	1	Y Yang
00002073	Tvrdik T1, Marcus S, Hou SM, F?lt S, Noori P, Podlutskaja N, Hanefeld F, Str?mme P, Lambert B.(1998)	-	-	LNS	-	1	1	Y Yang
00002074	[Marcus S1, Christensen E, Malm G.(1993)	-	-	LNS	-	1	1	Y Yang
00002075	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002076	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002077	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002078	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002079	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002080	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002081	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002082	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002083	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002084	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002085	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002086	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002087	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002088	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002089	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002090	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002091	Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)	-	-	LNS	-	1	1	Y Yang
00002092	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	1	1	Y Yang
00002093	Tarlé SA1, Davidson BL, Wu VC, Zidar FJ, Seegmiller JE, Kelley WN, Palella TD.(1991)	-	-	LNS	-	1	1	Y Yang
00002094	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	1	1	Y Yang
00002095	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002096	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002097	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002098	Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991)	-	-	LNS	-	1	1	Y Yang
00002099	Davidson BL1, Tarlé SA, Van Antwerp M, Gibbs DA, Watts RW, Kelley WN, Palella TD.(1991)	-	-	LNS	-	1	1	Y Yang
00002100	Fujimori S1, Tagaya T, Kamatani N, Akaoka I.(1992)	-	-	LNS	-	1	1	Y Yang
00002101	Fujimori S1, Davidson BL, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002102	Sege-Peterson K1, Chambers J, Page T, Jones OW, Nyhan WL.(1992)	-	-	LNS	-	1	1	Y Yang
00002103	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002104	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002105	Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988)	-	-	LNS	-	1	1	Y Yang
00002106	Wilson JM, Kelley WN.(1983)	-	-	LNS	-	1	1	Y Yang
00002107	Davidson BL1, Chin SJ, Wilson JM, Kelley WN, Palella TD.(1988)	-	-	LNS	-	1	1	Y Yang
00002108	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002109	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002110	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002111	Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT.(1986)	-	-	LNS	-	1	1	Y Yang
00002112	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	1	1	Y Yang
00002113	Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)	-	-	LNS	-	1	1	Y Yang
00002114	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002115	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	1	1	Y Yang
00002116	Gibbs RA1, Nguyen PN, Edwards A, Civitello AB, Caskey CT.(1990)	-	-	LNS	-	1	1	Y Yang
00002117	Davidson BL1, Pashmforoush M, Kelley WN, Palella TD.(1989)	-	-	LNS	-	1	1	Y Yang
00002118	Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990)	-	-	LNS	-	1	1	Y Yang
00002119	Fujimori S1, Kamatani N, Nishida Y, Ogasawara N, Akaoka I.(1990)	-	-	LNS	-	1	1	Y Yang
00002120	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002121	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002122	Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)	-	-	LNS	-	1	1	Y Yang
00002123	van Bogaert P1, Ceballos I, Desguerre I, Telvi L, Kamoun P, Ponsot G.(1992)	-	-	LNS	-	1	1	Y Yang
00002124	Yamada Y1, Goto H, Shiomi M, Yamamoto T, Higashino K, Ogasawara N.(1996)	-	-	LNS	-	1	1	Y Yang
00002125	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	1	1	Y Yang
00002126	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	1	1	Y Yang
00002127	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	1	1	Y Yang
00002128	Kim KJ1, Yamada Y, Suzumori K, Choi Y, Yang SW, Cheong HI, Hwang YS, Goto H, Ogasawara N.(1997)	-	-	LNS	-	1	1	Y Yang
00002129	Tohyama J1, Nanba E, Ohno K.(1994)	-	-	LNS	-	1	1	Y Yang
00002130	O'Neill P1, Trombley L, Gundel M, Hunter T, Nicklas JA, Ferreira ML, Bugallo MJ, Farias AC, Lohr A, Diamantopoulos M, Raskin S.(1999)	-	-	LNS	-	1	1	Y Yang
00002131	Zoref-Shani E1, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O.(2003)	-	-	LNS	-	1	1	Y Yang
00002132	Laróvere LE1, Romero N, Fairbanks LD, Conde C, Guelbert N, Rosa AL, de Kremer RD.(2004)	-	-	LNS	-	1	1	Y Yang
00002133	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002134	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002135	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002136	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002137	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002138	Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)	-	-	LNS	-	1	1	Y Yang
00002139	Gregoric A1, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B.(2005)	-	-	LNS	-	1	1	Y Yang
00002140	Cossu A1, Orrù S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V.(2006)	-	-	LNS	-	1	1	Y Yang
00002141	Zamora A1, Escárcega RO, Vazquez R, Zamora A, O'Neill JP.(2007)	-	-	LNS	-	1	1	Y Yang
00002142	Yamada Y1, Nomura N, Yamada K, Wakamatsu N, Kaneko K, Fujimori S.(2008)	-	-	LNS	-	1	1	Y Yang

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NDDVD - Neurodegenerative Diseases Variation Database

HPRT1 (hypoxanthine phosphoribosyltransferase 1)