Variant #0000004146 (NC_000014.8:g.29236946_29236947insG, FOXG1(NM_005249.4):c.461_462insG)

Individual ID 00004146
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29236946_29236947insG
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_000010
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.461_462insG r.(?) p.(Glu155Glyfs*300) VariO:0142 DNA insertion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004146 ? ? FOXG1 1 Y Yang