1:151377927-151377927 T > -

Classification

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

gene: POGZ synonym(s): ZNF280E, ZNF635, ZNF635m, POGZ, ENSG00000143442

OMIM
OMIM:614787: POGZ
OMIM:616364: White-Sutton syndrome

NM_015100.3 [CDS]
hgvs_c: NM_015100.3:c.3584del
reference AA: K
variant AA: X
reference codon: aAg
variant codon: ag
cDNA pos: 3899
CDS pos: 3584
translation impact: frameshift
protein sequence: NP_055915.2
AA pos: 1195
hgvs_p: NP_055915.2:p.Lys1195ArgfsTer33
blosum: -1