Classification

Category 2

premature_stop

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.8293G>T
reference AA: E
variant AA: *
reference codon: Gaa
variant codon: Taa
cDNA pos: 8413
CDS pos: 8293
translation impact: premature_stop
protein sequence: NP_001026.2
AA pos: 2765
hgvs_p: NP_001026.2:p.Glu2765Ter
blosum: -4

Export Variant

Curation

Uncertain Significance