1:63044648-63044648 A > -

Classification

Category 5 curation
CMH MAF 308 / 11970 samples (2.57%)
307 het., 1 hom. (99.7%)
309 / 23940 total alleles (1.29%)

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.1872-9del
splice impact: polypyrimidine_tract
protein sequence: NP_001258928.1

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

TRNAN-GUU [intron]

493041
clinvar_significance = Likely_pathogenic
curated_classification = 5