Variant #0000006114 (NC_000017.10:g.42992620G>A, GFAP(NM_002055.4):c.235C>T)

Individual ID 00006127
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42992620G>A
Reference M Brenner, A B Johnson, O Boespflug-Tanguy, D Rodriguez, J E Goldman, A Messing
DB-ID GFAP_000064 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
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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.235C>T r.(235c>u) p.Arg79Cys - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006149 DNA ? GFAP 1 XY Liu