Individual #00006078

Reference Abdelkarim S et al. (2016)
Ethnic origin -
Remarks not a highly penetrant pathogenic variant
Panel size 1
Diseases FTLD
Owner name XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006100 ? ? CHCHD10 1 XY Liu



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     
22 Unknown ./. g.24109722G>A Abdelkarim S et al. (2016) CHCHD10_000003 - XY Liu CHCHD10 2 NM_213720.1:c.100C>T r.(?) p.(Pro34Ser) - -
Legend   How to query