1:237730059-237730059 C > T

Classification

Category 4 curation
CMH MAF 271 / 13333 samples (2.03%)
271 het., 0 hom. (100%)
271 / 26666 total alleles (1.02%)

gene: RYR2 synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626

OMIM
OMIM:180902: RYR2
OMIM:600996: Arrhythmogenic right ventricular dysplasia 2
OMIM:604772: Ventricular tachycardia, catecholaminergic polymorphic, 1

NM_001035.2 [CDS]
hgvs_c: NM_001035.2:c.3407C>T
reference AA: A
variant AA: V
reference codon: gCc
variant codon: gTc
cDNA pos: 3527
CDS pos: 3407
translation impact: non_synonymous
protein sequence: NP_001026.2
AA pos: 1136
hgvs_p: NP_001026.2:p.Ala1136Val
blosum: 0
PolyPhen2: benign (0.001)

rs72549415
GMAF = 0.002396
TOPMED_MAF = 0.00715150356778797

EVS
EVS MAF (European American/African American/All) = 0.013046,0.002387,0.009507

ExAC Non-Finnish, (761 / 66730), 1.14%
gnomAD Estonian, (103 / 4832), 2.13% curated_classification = 4