Classification
Category 3
curation
CMH MAF
13 /
14969 samples
(0.0868%)
13 het.,
0 hom.
(100%)
13 /
29938 total alleles
(0.0434%)
Genes
gene: USH2A
synonym(s): dJ1111A8.1, RP39, US2, USH2, USH2A, ENSG00000042781
ENST00000307340.3
[CDS]
Reportable
hgvs_c: ENST00000307340.3:c.5624A>G
reference AA: N
variant AA: S
reference codon: aAc
variant codon: aGc
cDNA pos: 6011
CDS pos: 5624
translation impact: non_synonymous
protein sequence:
ENSP00000305941.3
AA pos: 1875
hgvs_p: ENSP00000305941.3:p.Asn1875Ser
blosum: 1
PolyPhen2: benign (0.082)
dbSNP
rs141609561
GMAF = 0.0007987
TOPMED_MAF = 0.00082823649337410
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.003177,0.001307
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
26 / 10352 |
0.251% |
| America/Latino |
6 / 11374 |
0.0528% |
| East Asian |
0 / 8570 |
0% |
| Finnish |
0 / 6562 |
0% |
| Non-Finnish |
6 / 66472 |
0.00903% |
| Other |
0 / 902 |
0% |
| South Asian |
0 / 16444 |
0% |
| Total MAF |
38 / 120676 |
0.0315% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
79 / 24956 |
0.317% |
| America/Latino |
15 / 35306 |
0.0425% |
| Ashkenazi Jewish |
0 / 10348 |
0% |
| East Asian |
0 / 19900 |
0% |
| Finnish |
0 / 25104 |
0% |
| Non-Finnish |
8 / 128662 |
0.00622% |
| Other |
7 / 7182 |
0.0975% |
| South Asian |
0 / 30610 |
0% |
| Korean |
0 / 3766 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2668 |
0% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
4 / 50540 |
0.00791% |
| Southern European |
1 / 11580 |
0.00864% |
| Swedish |
1 / 26098 |
0.00383% |
| Other non-Finnish European |
2 / 32946 |
0.00607% |
| Total MAF |
109 / 282068 |
0.0386% |
curated_classification = 3
Export Variant