Variant #0000004145 (NC_000014.8:g.29237733C>A, FOXG1(NM_005249.4):c.1248C>A)

Individual ID 00004145
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29237733C>A
Reference Bahi-Buisson N1, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T.(2010)
DB-ID FOXG1_000009
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     
FOXG1 NM_005249.4 ./. 1 c.1248C>A r.(?) p.(Tyr416*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004145 ? ? FOXG1 1 Y Yang