Variant #0000002138 (NC_000023.10:g.133620505_133620508delinsTCT, HPRT1(NM_000194.2):c.329_332delinsTCT)

Individual ID 00002138
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133620505_133620508delinsTCT
Reference Bertelli M1, Randi D, Micheli V, Gallo S, Andrighetto G, Parmigiani P, Jacomelli G, Carella M, Lievore C, Pandolfo M.(2004)
DB-ID HPRT1_000129
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
HPRT1 NM_000194.2 ./. 4 c.329_332delinsTCT r.(?) p.(Ser110Phefs*2) VariO:0143 DNA indel VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002138 ? ? HPRT1 1 Y Yang