Variant #0000001654 (NC_000001.10:g.115828735_115828736delCC, NGF(NM_002506.2):c.681_682delGG)

Individual ID 00001654
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.115828735_115828736delCC
Reference Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011)
DB-ID NGF_000003
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     
NGF NM_002506.2 ./. 3 c.681_682delGG r.(?) p.(Ala228Leufs*43) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001654 ? ? NGF 1 Y Yang