Classification
Category 3
non_synonymous
CMH MAF
4 /
13333 samples
(0.03%)
4 het.,
0 hom.
(100%)
4 /
26666 total alleles
(0.015%)
Genes
gene: RYR2
synonym(s): ARVC2, ARVD2, RyR, RYR-2, VTSIP, RYR2, ENSG00000198626
NM_001035.2
[CDS]
Reportable
hgvs_c: NM_001035.2:c.6299G>A
reference AA: R
variant AA: Q
reference codon: cGg
variant codon: cAg
cDNA pos: 6419
CDS pos: 6299
translation impact: non_synonymous
protein sequence:
NP_001026.2
AA pos: 2100
hgvs_p: NP_001026.2:p.Arg2100Gln
blosum: 1
PolyPhen2: benign (0.018)
dbSNP
rs796202631
TOPMED_MAF = 0.00003981906218144
ClinVar
377080
clinvar_significance = Uncertain_significance
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 24152 |
0% |
| America/Latino |
0 / 35364 |
0% |
| Ashkenazi Jewish |
0 / 10348 |
0% |
| East Asian |
2 / 19518 |
0.0102% |
| Finnish |
0 / 25018 |
0% |
| Non-Finnish |
2 / 128318 |
0.00156% |
| Other |
1 / 7132 |
0.014% |
| South Asian |
0 / 30596 |
0% |
| Korean |
0 / 3808 |
0% |
| Japanese |
0 / 134 |
0% |
| Other East Asian |
2 / 14022 |
0.0143% |
| Bulgarian |
0 / 2664 |
0% |
| Estonian |
0 / 4802 |
0% |
| North-Western European |
1 / 50572 |
0.00198% |
| Southern European |
0 / 11506 |
0% |
| Swedish |
0 / 25908 |
0% |
| Other non-Finnish European |
1 / 32866 |
0.00304% |
| Total MAF |
5 / 280446 |
0.00178% |
Export Variant