Variant #0000006125 (NC_000017.10:g.42988739A>G, GFAP(NM_002055.4):c.(992T>C))

Individual ID 00006138
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42988739A>G
Reference Takashi Shiihara, Yukio Sawaishi, Michito Adachi, Mitsuhiro Kato, Kiyoshi Hayasaka
DB-ID GFAP_000032 See all 2 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 ?/. 6 c.(992T>C) r.(992u>c) p.Leu331Pro - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006160 ? ? GFAP 1 XY Liu