11:67378501-67378501 G > A

Classification

Category 1
CMH MAF 6 / 11422 samples (0.0525%)
6 het., 0 hom. (100%)
6 / 22844 total alleles (0.0263%)

gene: NDUFV1 synonym(s): CI-51K, CI51KD, UQOR1, NDUFV1, ENSG00000167792

OMIM
OMIM:161015: NDUFV1
OMIM:618225: Mitochondrial complex I deficiency, nuclear type 4

NM_007103.3 [CDS]
hgvs_c: NM_007103.3:c.736G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 889
CDS pos: 736
translation impact: non_synonymous
protein sequence: NP_009034.2
AA pos: 246
hgvs_p: NP_009034.2:p.Glu246Lys
blosum: 1
SIFT: deleterious_low_confidence (0.0)
PolyPhen2: probably_damaging (0.971)

rs375897089
TOPMED_MAF = 0.00001592762487257

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

gnomAD Non-Finnish, (1 / 14998), 0.00667%