Variant #0000264643 (NC_000022.10:g.24109787G>C, CHCHD10(NM_213720.1):c.42-7C>G)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.24109787G>C
DNA change (hg38) g.23767600G>C
Published as CHCHD10(NM_001301339.2):c.42-7C>G
ISCN -
DB-ID CHCHD10_000009
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) 0.00031 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C22orf15 NM_182520.2 -?/. - c.*1868G>C r.(=) p.(=)
CHCHD10 NM_213720.1 -?/. - c.42-7C>G r.(=) p.(=)