Full data view for gene NDUFAF1

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.26G>A r.(?) p.(Arg9His) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.92G>T r.(?) p.(Arg31Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.526G>A r.(?) p.(Glu176Lys) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 70 Mohammed Faruq
?/. - c.526G>A r.(?) p.(Glu176Lys) Both (homozygous) - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.834+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
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