Variant #0000530936 (NC_000007.13:g.132660005G>A, CHCHD3(NM_017812.2):c.293C>T)

Chromosome 7
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.132660005G>A
DNA change (hg38) g.132975245G>A
Published as CHCHD3(NM_001317177.1):c.293C>T (p.A98V)
ISCN -
DB-ID CHCHD3_000001
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHCHD3 NM_017812.2 ?/. - c.293C>T r.(?) p.(Ala98Val)