Variant #0000002112 (NC_000023.10:g.133609284G>C, HPRT1(NM_000194.2):c.208G>C)

Individual ID 00002112
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133609284G>C
Reference Bouwens-Rombouts AG1, van den Boogaard MJ, Puig JG, Mateos FA, Hennekam RC, Tilanus MG.(1993)
DB-ID HPRT1_000024 See all 3 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 ./. 3 c.208G>C r.(?) p.(Gly70Arg) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002112 ? ? HPRT1 1 Y Yang