1:62979504-62979504 C > T

Classification

Category 2 premature_stop
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

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.4002G>A
reference AA: W
variant AA: *
reference codon: tgG
variant codon: tgA
cDNA pos: 4106
CDS pos: 4002
translation impact: premature_stop
protein sequence: NP_001258928.1
AA pos: 1334
hgvs_p: NP_001258928.1:p.Trp1334Ter
blosum: -4

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

TRNAN-GUU [intron]