Variant #0000339748 (NC_000022.10:g.24109774T>G, CHCHD10(NM_213720.1):c.48A>C)

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.24109774T>G
DNA change (hg38) g.23767587T>G
Published as CHCHD10(NM_001301339.2):c.48A>C (p.P16=)
ISCN -
DB-ID CHCHD10_000011 See all 3 reported entries
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) 0.80904 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
C22orf15 NM_182520.2 -/. - c.*1855T>G r.(=) p.(=)
CHCHD10 NM_213720.1 -/. - c.48A>C r.(?) p.(Pro16=)