Variant #0000000091 (NC_000017.10:g.42988797C>A, GFAP(NM_002055.4):c.934G>T)

Individual ID 00000091
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.42988797C>A
Reference Nam TS1, Kim JH2, Chang CH3, Yoon W4, Jung YS5, Kang SY6, Shin BA7, Perng MD3, Choi SY8, Kim MK1.(2015)
DB-ID GFAP_000010 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
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 ./. 6 c.934G>T r.(?) p.(Glu312*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000091 ? ? GFAP 1 Y Yang