Variant #0000624399 (NC_000023.10:g.119007340G>A, NDUFA1(NM_004541.3):c.176G>A)

Chromosome X
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.119007340G>A
DNA change (hg38) g.119873377G>A
Published as NDUFA1(NM_004541.3):c.176G>A (p.R59H)
ISCN -
DB-ID NDUFA1_000010
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.176G>A r.(?) p.(Arg59His)
RNF113A NM_006978.2 ?/. - c.-1764C>T r.(?) p.(=)