Variant #0000571543 (NC_000022.10:g.24108328del, CHCHD10(NM_213720.1):c.396del)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.24108328del
DNA change (hg38) g.23766141del
Published as CHCHD10(NM_001301339.2):c.417delC (p.C139*)
ISCN -
DB-ID C22orf15_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C22orf15 NM_182520.2 ?/. - c.*409del r.(?) p.(=)
CHCHD10 NM_213720.1 ?/. - c.396del r.(?) p.(Cys132Ter)