Variant #0000809821 (NC_000023.10:g.119005069T>C, NDUFA1(NM_004541.3):c.-806T>C)

Chromosome X
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.119005069T>C
DNA change (hg38) -
Published as RNF113A(NM_006978.2):c.508A>G (p.M170V)
ISCN -
DB-ID NDUFA1_000014
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) 1.0E-5 View details
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     
NDUFA1 NM_004541.3 -?/. - c.-806T>C r.(?) p.(=)
RNF113A NM_006978.2 -?/. - c.508A>G r.(?) p.(Met170Val)