Variant #0000000025 (NC_000017.10:g.42989119C>A, GFAP(NM_002055.4):c.827G>T)

Individual ID 00000025
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42989119C>A
Reference Namekawa M1, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I.(2010)
DB-ID GFAP_000003 See all 3 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 ./. 5 c.827G>T r.(?) p.(Arg276Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000025 ? ? GFAP 1 Y Yang