Classification
Category 4
non_synonymous
CMH MAF
63 /
13105 samples
(0.481%)
63 het.,
0 hom.
(100%)
63 /
26210 total alleles
(0.24%)
Genes
gene: TMEM63A
synonym(s): KIAA0792, TMEM63A, ENSG00000196187
NM_014698.2
[CDS]
Reportable
hgvs_c: NM_014698.2:c.1906C>G
reference AA: L
variant AA: V
reference codon: Ctc
variant codon: Gtc
cDNA pos: 2528
CDS pos: 1906
translation impact: non_synonymous
protein sequence:
NP_055513.2
AA pos: 636
hgvs_p: NP_055513.2:p.Leu636Val
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.999)
dbSNP
rs115530894
GMAF = 0.000599
TOPMED_MAF = 0.00160072629969418
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.002442,0.000681,0.001845
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
5 / 10394 |
0.0481% |
| America/Latino |
17 / 11576 |
0.147% |
| East Asian |
0 / 8652 |
0% |
| Finnish |
2 / 6614 |
0.0302% |
| Non-Finnish |
163 / 66570 |
0.245% |
| Other |
2 / 900 |
0.222% |
| South Asian |
37 / 16322 |
0.227% |
| Total MAF |
226 / 121028 |
0.187% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
18 / 24964 |
0.0721% |
| America/Latino |
69 / 35414 |
0.195% |
| Ashkenazi Jewish |
9 / 10352 |
0.0869% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
7 / 25098 |
0.0279% |
| Non-Finnish |
379 / 128930 |
0.294% |
| Other |
9 / 7210 |
0.125% |
| South Asian |
68 / 30612 |
0.222% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
9 / 2670 |
0.337% |
| Estonian |
19 / 4820 |
0.394% |
| North-Western European |
169 / 50650 |
0.334% |
| Southern European |
52 / 11588 |
0.449% |
| Swedish |
26 / 26132 |
0.0995% |
| Other non-Finnish European |
104 / 33070 |
0.314% |
| Total MAF |
559 / 282532 |
0.198% |
Export Variant