Variant #0000004137 (NC_000014.8:g.29237249G>A, FOXG1(NM_005249.4):c.764G>A)

Individual ID 00004137
Chromosome 14
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29237249G>A
Reference Ariani F1, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.(2008)
DB-ID FOXG1_000001
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
Options




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.764G>A r.(?) p.(Trp255*) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004137 ? ? FOXG1 1 Y Yang