Variant #0000006147 (NC_000017.10:g.42992619C>T, GFAP(NM_002055.4):c.236G>A)

Individual ID 00006159
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42992619C>T
Reference Yumi Matsuyama, Marie Satake, Ryotaro Kamei, Tomokatsu Yoshida
DB-ID GFAP_000009 See all 5 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
GFAP NM_002055.4 ?/. 1 c.236G>A r.(236g>a) p.Arg79His - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006181 ? ? GFAP 1 XY Liu