Variant #0000002108 (NC_000023.10:g.133624222T>A, HPRT1(NM_000194.2):c.389T>A)

Individual ID 00002108
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133624222T>A
Reference Gibbs RA1, Nguyen PN, McBride LJ, Koepf SM, Caskey CT.(1989)
DB-ID HPRT1_000017 See all 4 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
HPRT1 NM_000194.2 ./. 5 c.389T>A r.(?) p.(Val130Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002108 ? ? HPRT1 1 Y Yang