All screenings for gene HPRT1

Legend

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Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting

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.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Screening ID	Individual ID	Template	Technique	Variants found	Owner
0000002043	00002043	?	?	1	Y Yang
0000002044	00002044	?	?	1	Y Yang
0000002045	00002045	?	?	1	Y Yang
0000002046	00002046	?	?	1	Y Yang
0000002047	00002047	?	?	1	Y Yang
0000002048	00002048	?	?	1	Y Yang
0000002049	00002049	?	?	1	Y Yang
0000002050	00002050	?	?	1	Y Yang
0000002051	00002051	?	?	1	Y Yang
0000002052	00002052	?	?	1	Y Yang
0000002053	00002053	?	?	1	Y Yang
0000002054	00002054	?	?	1	Y Yang
0000002055	00002055	?	?	1	Y Yang
0000002056	00002056	?	?	1	Y Yang
0000002057	00002057	?	?	1	Y Yang
0000002058	00002058	?	?	1	Y Yang
0000002059	00002059	?	?	1	Y Yang
0000002060	00002060	?	?	1	Y Yang
0000002061	00002061	?	?	1	Y Yang
0000002062	00002062	?	?	1	Y Yang
0000002063	00002063	?	?	1	Y Yang
0000002064	00002064	?	?	1	Y Yang
0000002065	00002065	?	?	1	Y Yang
0000002066	00002066	?	?	1	Y Yang
0000002067	00002067	?	?	1	Y Yang
0000002068	00002068	?	?	1	Y Yang
0000002069	00002069	?	?	1	Y Yang
0000002070	00002070	?	?	1	Y Yang
0000002071	00002071	?	?	1	Y Yang
0000002072	00002072	?	?	1	Y Yang
0000002073	00002073	?	?	1	Y Yang
0000002074	00002074	?	?	1	Y Yang
0000002075	00002075	?	?	1	Y Yang
0000002076	00002076	?	?	1	Y Yang
0000002077	00002077	?	?	1	Y Yang
0000002078	00002078	?	?	1	Y Yang
0000002079	00002079	?	?	1	Y Yang
0000002080	00002080	?	?	1	Y Yang
0000002081	00002081	?	?	1	Y Yang
0000002082	00002082	?	?	1	Y Yang
0000002083	00002083	?	?	1	Y Yang
0000002084	00002084	?	?	1	Y Yang
0000002085	00002085	?	?	1	Y Yang
0000002086	00002086	?	?	1	Y Yang
0000002087	00002087	?	?	1	Y Yang
0000002088	00002088	?	?	1	Y Yang
0000002089	00002089	?	?	1	Y Yang
0000002090	00002090	?	?	1	Y Yang
0000002091	00002091	?	?	1	Y Yang
0000002092	00002092	?	?	1	Y Yang
0000002093	00002093	?	?	1	Y Yang
0000002094	00002094	?	?	1	Y Yang
0000002095	00002095	?	?	1	Y Yang
0000002096	00002096	?	?	1	Y Yang
0000002097	00002097	?	?	1	Y Yang
0000002098	00002098	?	?	1	Y Yang
0000002099	00002099	?	?	1	Y Yang
0000002100	00002100	?	?	1	Y Yang
0000002101	00002101	?	?	1	Y Yang
0000002102	00002102	?	?	1	Y Yang
0000002103	00002103	?	?	1	Y Yang
0000002104	00002104	?	?	1	Y Yang
0000002105	00002105	?	?	1	Y Yang
0000002106	00002106	?	?	1	Y Yang
0000002107	00002107	?	?	1	Y Yang
0000002108	00002108	?	?	1	Y Yang
0000002109	00002109	?	?	1	Y Yang
0000002110	00002110	?	?	1	Y Yang
0000002111	00002111	?	?	1	Y Yang
0000002112	00002112	?	?	1	Y Yang
0000002113	00002113	?	?	1	Y Yang
0000002114	00002114	?	?	1	Y Yang
0000002115	00002115	?	?	1	Y Yang
0000002116	00002116	?	?	1	Y Yang
0000002117	00002117	?	?	1	Y Yang
0000002118	00002118	?	?	1	Y Yang
0000002119	00002119	?	?	1	Y Yang
0000002120	00002120	?	?	1	Y Yang
0000002121	00002121	?	?	1	Y Yang
0000002122	00002122	?	?	1	Y Yang
0000002123	00002123	?	?	1	Y Yang
0000002124	00002124	?	?	1	Y Yang
0000002125	00002125	?	?	1	Y Yang
0000002126	00002126	?	?	1	Y Yang
0000002127	00002127	?	?	1	Y Yang
0000002128	00002128	?	?	1	Y Yang
0000002129	00002129	?	?	1	Y Yang
0000002130	00002130	?	?	1	Y Yang
0000002131	00002131	?	?	1	Y Yang
0000002132	00002132	?	?	1	Y Yang
0000002133	00002133	?	?	1	Y Yang
0000002134	00002134	?	?	1	Y Yang
0000002135	00002135	?	?	1	Y Yang
0000002136	00002136	?	?	1	Y Yang
0000002137	00002137	?	?	1	Y Yang
0000002138	00002138	?	?	1	Y Yang
0000002139	00002139	?	?	1	Y Yang
0000002140	00002140	?	?	1	Y Yang
0000002141	00002141	?	?	1	Y Yang
0000002142	00002142	?	?	1	Y Yang

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

NDDVD - Neurodegenerative Diseases Variation Database

HPRT1 (hypoxanthine phosphoribosyltransferase 1)