1:3319395-3319395 C > -

Classification

Category 2 frameshift
CMH MAF 2 / 13144 samples (0.0152%)
2 het., 0 hom. (100%)
2 / 26288 total alleles (0.00761%)

gene: PRDM16 synonym(s): MEL1, PFM13, PRDM16, ENSG00000142611

OMIM
OMIM:605557: PRDM16 (Autosomal dominant inheritance)
OMIM:615373: Cardiomyopathy, dilated, 1LL
OMIM:615373: Left ventricular noncompaction 8

NM_022114.3 [CDS]
hgvs_c: NM_022114.3:c.718del
reference AA: F
variant AA: X
reference codon: ttC
variant codon: tt
cDNA pos: 799
CDS pos: 717
translation impact: frameshift
protein sequence: NP_071397.3
AA pos: 239
hgvs_p: NP_071397.3:p.Gln240SerfsTer104
blosum: -1