Variant #0000728058 (NC_000022.10:g.24110046G>C, CHCHD10(NM_213720.1):c.16C>G)

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.24110046G>C
DNA change (hg38) -
Published as CHCHD10(NM_001301339.2):c.16C>G (p.R6G)
ISCN -
DB-ID C22orf15_000007
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) 4.0E-5 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMP11 NM_005940.3 ?/. - c.-5012G>C r.(?) p.(=)
C22orf15 NM_182520.2 ?/. - c.*2127G>C r.(=) p.(=)
CHCHD10 NM_213720.1 ?/. - c.16C>G r.(?) p.(Arg6Gly)