Variant #0000002172 (NC_000023.10:g.133620547_133620548insTT, HPRT1(NM_000194.2):c.371_372insTT)

Individual ID 00002172
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133620547_133620548insTT
Reference Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)
DB-ID HPRT1_000107
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.371_372insTT r.(?) p.(Leu125Phefs*2) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002172 ? ? HPRT1 1 Y Yang