Variant #0000624269 (NC_000022.10:g.24109747C>A, CHCHD10(NM_213720.1):c.75G>T)

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.24109747C>A
DNA change (hg38) g.23767560C>A
Published as CHCHD10(NM_001301339.2):c.75G>T (p.A25=)
ISCN -
DB-ID C22orf15_000006
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) Variant not found in online data sets
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     
C22orf15 NM_182520.2 -?/. - c.*1828C>A r.(=) p.(=)
CHCHD10 NM_213720.1 -?/. - c.75G>T r.(?) p.(Ala25=)