11:1457308-1457308 A > -

Classification

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

gene: BRSK2 synonym(s): C11orf7, PEN11B, SAD1, STK29, BRSK2, ENSG00000174672

NM_001256627.1 [CDS]
hgvs_c: NM_001256627.1:c.131del
reference AA: K
variant AA: X
reference codon: Aag
variant codon: ag
cDNA pos: 516
CDS pos: 130
translation impact: frameshift
protein sequence: NP_001243556.1
AA pos: 44
hgvs_p: NP_001243556.1:p.Lys44ArgfsTer17
blosum: -1