Variant #0000002050 (NC_000023.10:g.133607485A>T, HPRT1(NM_000194.2):c.124A>T)

Individual ID 00002050
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133607485A>T
Reference Burgemeister R1, Gutensohn W, Van den Berghe G, Jaeken J.(1994)
DB-ID HPRT1_000011
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 ./. 2 c.124A>T r.(?) p.(Ile42Phe) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002050 ? ? HPRT1 1 Y Yang