Variant #0000000090 (NC_000017.10:g.42985443G>A, GFAP(NM_002055.4):c.1246C>T)

Individual ID 00000090
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42985443G>A
Reference Nishri D1, Edvardson S2, Lev D3, Leshinsky-Silver E4, Ben-Sira L5, Henneke M6, Lerman-Sagie T7, Blumkin L(2014)
DB-ID GFAP_000012 See all 6 reported entries
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 ./. 8 c.1246C>T r.(?) p.(Arg416Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000090 ? ? GFAP 1 Y Yang