Variant #0000667547 (NC_000023.10:g.119007291T>C, NDUFA1(NM_004541.3):c.127T>C)

Individual ID 00303024
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.119007291T>C
DNA change (hg38) g.119873328T>C
Published as -
ISCN -
DB-ID NDUFA1_000011
Variant remarks -
Reference PubMed: Helbig 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NDUFA1 NM_004541.3 +?/. - c.127T>C r.(?) p.(Tyr43His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304149 DNA SEQ-NG - WES NDUFA1 1 Johan den Dunnen