Classification

Category 4

intronic

CMH MAF

1 / 6917 samples (0.0145%)
1 het., 0 hom. (100%)
1 / 13834 total alleles (0.00723%)

Genes

gene: KATNA1 synonym(s): KATNA1, ENSG00000186625

NM_001204076.1 [intron]
hgvs_c: NM_001204076.1:c.501+970del
protein sequence: NP_001191005.1

NM_007044.3 [intron] Reportable
hgvs_c: NM_007044.3:c.501+970del
protein sequence: NP_008975.1

Export Variant

Curation