Classification

Category 5

curation

CMH MAF

52 / 11949 samples (0.435%)
52 het., 0 hom. (100%)
52 / 23898 total alleles (0.218%)

Genes

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

NM_001271999.1 [intron] Reportable
hgvs_c: NM_001271999.1:c.1872-9dupT
splice impact: polypyrimidine_tract
protein sequence: NP_001258928.1

NM_001272000.1 [intron]
hgvs_c: NM_001272000.1:c.1872-9dupT
protein sequence: NP_001258929.1

NM_001272001.1 [intron]
hgvs_c: NM_001272001.1:c.1872-9dupT
protein sequence: NP_001258930.1

NM_033407.3 [intron]
hgvs_c: NM_033407.3:c.1872-9dupT
protein sequence: NP_212132.2

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

TRNAN-GUU [intron] Reportable
curated_classification = 5

Export Variant

Curation

Benign