Variant #0000264640 (NC_000022.10:g.24109651C>T, CHCHD10(NM_213720.1):c.171G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.24109651C>T
DNA change (hg38) g.23767464C>T
Published as CHCHD10(NM_001301339.2):c.171G>A (p.V57=)
ISCN -
DB-ID CHCHD10_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 5.0E-5 View details
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.*1732C>T r.(=) p.(=)
CHCHD10 NM_213720.1 -/. - c.171G>A r.(?) p.(Val57=)