All variants in the NDUFAF1 gene

Information The variants shown are described using the NM_016013.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.26G>A r.(?) p.(Arg9His) - benign g.41689232C>T g.41397034C>T NDUFAF1(NM_016013.3):c.26G>A (p.R9H) - NDUFAF1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.92G>T r.(?) p.(Arg31Leu) - benign g.41689166C>A g.41396968C>A NDUFAF1(NM_016013.3):c.92G>T (p.R31L) - NDUFAF1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.526G>A r.(?) p.(Glu176Lys) - VUS g.41688732C>T g.41396534C>T - - NDUFAF1_000004 conflicting interpretations of pathogenicity; 70 heterozygous; Clinindb (India) Faruq 2020, submtted - rs35227875 Germline - 70/2795 individuals - 0 - Mohammed Faruq
?/. - c.526G>A r.(?) p.(Glu176Lys) - VUS g.41688732C>T g.41396534C>T - - NDUFAF1_000004 conflicting interpretations of pathogenicity; 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs35227875 Germline - 1/2795 individuals - 0 - Mohammed Faruq
?/. - c.834+1G>A r.spl? p.? - VUS g.41680645C>T g.41388447C>T NDUFAF1(NM_016013.3):c.834+1G>A - NDUFAF1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend   How to query