Variant #0000001068 (NC_000014.8:g.55332097T>A, GCH1(NM_000161.2):c.401A>T)

Individual ID 00001068
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55332097T>A
Reference Bandmann O1, Nygaard TG, Surtees R, Marsden CD, Wood NW, Harding AE.(1996)
DB-ID GCH1_000013 See all 2 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     
GCH1 NM_000161.2 ./. 2 c.401A>T r.(?) p.(Asp134Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001068 ? ? GCH1 1 Y Yang