Variant #0000006065 (NC_000022.10:g.24109722G>A, CHCHD10(NM_213720.1):c.100C>T)

Individual ID 00006078
Chromosome 22
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.24109722G>A
Reference Abdelkarim S et al. (2016)
DB-ID CHCHD10_000003 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00277 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CHCHD10 NM_213720.1 ./. 2 c.100C>T r.(?) p.(Pro34Ser) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000006100 ? ? CHCHD10 1 XY Liu