Variant #0000001167 (NC_000014.8:g.55369223delC, GCH1(NM_000161.2):c.159delG)

Individual ID 00001167
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.55369223delC
Reference Bernal-Pacheco O1, Oyama G, Briton A, Singleton AB, Fernandez HH, Rodriguez RL, Malaty IA, Okun MS.(2013)
DB-ID GCH1_000050
Frequency XYZ19940216
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     
GCH1 NM_000161.2 ./. 1 c.159delG r.(?) p.(Trp53*) VariO:0141 DNA deletion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001167 ? ? GCH1 1 Y Yang