Variant #0000618497 (NC_000022.10:g.24110014C>T, CHCHD10(NM_213720.1):c.41+7G>A)

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.24110014C>T
DNA change (hg38) g.23767827C>T
Published as CHCHD10(NM_001301339.1):c.41+7G>A, CHCHD10(NM_001301339.2):c.41+7G>A
ISCN -
DB-ID C22orf15_000005 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 -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.001 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMP11 NM_005940.3 -?/. - c.-5044C>T r.(?) p.(=)
C22orf15 NM_182520.2 -?/. - c.*2095C>T r.(=) p.(=)
CHCHD10 NM_213720.1 -?/. - c.41+7G>A r.(=) p.(=)