15:25615817-25615817 G > A

Classification

Category 1
CMH MAF 1 / 13843 samples (0.00722%)
1 het., 0 hom. (100%)
1 / 27686 total alleles (0.00361%)

gene: UBE3A synonym(s): ANCR, AS, E6-AP, EPVE6AP, HPVE6A, UBE3A, ENSG00000114062

OMIM
OMIM:601623: UBE3A (Autosomal dominant inheritance,Sporadic)
OMIM:105830: Angelman syndrome

NM_130838.1 [CDS]
hgvs_c: NM_130838.1:c.1444C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 1488
CDS pos: 1444
translation impact: premature_stop
protein sequence: NP_570853.1
AA pos: 482
hgvs_p: NP_570853.1:p.Arg482Ter
blosum: -4

446052
clinvar_significance = Pathogenic