Individual #00001654

Reference Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011)
Ethnic origin -
Remarks -
Panel size 1
Diseases HSAN
Owner name Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001654 ? ? NGF 1 Y Yang



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
1 Unknown ./. g.115828735_115828736delCC Carvalho OP1, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, Rielly M, Al-Gazali L, Woods CG.(2011) NGF_000003 - Y Yang NGF 3 NM_002506.2:c.681_682delGG r.(?) p.(Ala228Leufs*43) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
Legend   How to query