1:63091086-63091086 A > -

Classification

Category 4 curation
CMH MAF 181 / 11954 samples (1.51%)
180 het., 1 hom. (99.4%)
182 / 23908 total alleles (0.761%)

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

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

NM_001271999.1 [intron]
hgvs_c: NM_001271999.1:c.1283-14del
splice impact: polypyrimidine_tract
protein sequence: NP_001258928.1

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

TRNAN-GUU [intron]

rs541344421
GMAF = 0.001198
TOPMED_MAF = 0.00502516564729867

EVS
EVS MAF (European American/African American/All) = 0.011512,0.009855,0.010948

ExAC Non-Finnish, (619 / 65330), 0.947%
gnomAD North-Western European, (457 / 38002), 1.2% curated_classification = 4