1:237791319-237791319 C > T

Classification

Category 3
CMH MAF 1 / 13333 samples (0.0075%)
1 het., 0 hom. (100%)
1 / 26666 total alleles (0.00375%)

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.6379C>T
reference AA: R
variant AA: W
reference codon: Cgg
variant codon: Tgg
cDNA pos: 6499
CDS pos: 6379
translation impact: non_synonymous
protein sequence: NP_001026.2
AA pos: 2127
hgvs_p: NP_001026.2:p.Arg2127Trp
blosum: -3
PolyPhen2: probably_damaging (1.0)

COSMIC Mutation ID = COSV63680230
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true