Classification
Category 3
CMH MAF
1 /
13333 samples
(0.0075%)
1 het.,
0 hom.
(100%)
1 /
26666 total alleles
(0.00375%)
Genes
gene: RYR2
synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626
NM_001035.2
[CDS]
Reportable
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
COSMIC Mutation ID = COSV63680230
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
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