1:63085630-63085630 T > C

Classification

Category 5 curation
CMH MAF 113 / 13144 samples (0.86%)
113 het., 0 hom. (100%)
113 / 26288 total alleles (0.43%)

gene: DOCK7 synonym(s): ZIR2, DOCK7, ENSG00000116641

OMIM
OMIM:615730: DOCK7
OMIM:615859: Epileptic encephalopathy, early infantile, 23

NM_001271999.1 [CDS]
hgvs_c: NM_001271999.1:c.1460A>G
reference AA: K
variant AA: R
reference codon: aAa
variant codon: aGa
cDNA pos: 1564
CDS pos: 1460
translation impact: non_synonymous
protein sequence: NP_001258928.1
AA pos: 487
hgvs_p: NP_001258928.1:p.Lys487Arg
blosum: 2
SIFT: deleterious (0.05)
PolyPhen2: benign (0.271)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs72913293
GMAF = 0.008187
TOPMED_MAF = 0.01014589704383282

218580
clinvar_significance = Benign
clinvar_disease = Epileptic encephalopathy

EVS
EVS MAF (European American/African American/All) = 0.003488,0.030640,0.012686

ExAC African, (322 / 10390), 3.1%
gnomAD African, (736 / 24940), 2.95% curated_classification = 5