Variant #0000000024 (NC_000017.10:g.42989111T>C, GFAP(NM_002055.4):c.835A>G)

Individual ID 00000024
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42989111T>C
Reference Li R1, Johnson AB, Salomons G, Goldman JE, Naidu S, Quinlan R, Cree B, Ruyle SZ, Banwell B, D'Hooghe M, Siebert JR, Rolf CM, Cox H, Reddy A, GutiƩrrez-Solana LG, Collins A, Weller RO, Messing A, van der Knaap MS, Brenner M.(2005)
DB-ID GFAP_000034
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     
GFAP NM_002055.4 ./. 5 c.835A>G r.(?) p.(Lys279Glu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000024 ? ? GFAP 1 Y Yang