Classification
Category 3
curation
CMH MAF
13 /
13144 samples
(0.0989%)
13 het.,
0 hom.
(100%)
13 /
26288 total alleles
(0.0495%)
Genes
gene: RD3
synonym(s): C1orf36, LCA12, RD3, ENSG00000198570
NM_001164688.1
[CDS]
hgvs_c: NM_001164688.1:c.259A>G
reference AA: K
variant AA: E
reference codon: Aag
variant codon: Gag
cDNA pos: 1420
CDS pos: 259
translation impact: non_synonymous
protein sequence:
NP_001158160.1
AA pos: 87
hgvs_p: NP_001158160.1:p.Lys87Glu
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.792)
NM_183059.2
[CDS]
Reportable
hgvs_c: NM_183059.2:c.259A>G
reference AA: K
variant AA: E
reference codon: Aag
variant codon: Gag
cDNA pos: 1423
CDS pos: 259
translation impact: non_synonymous
protein sequence:
NP_898882.1
AA pos: 87
hgvs_p: NP_898882.1:p.Lys87Glu
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: possibly_damaging (0.792)
dbSNP
rs200585050
TOPMED_MAF = 0.00039819062181447
ClinVar
295257
clinvar_significance = Uncertain_significance
clinvar_disease = Leber congenital amaurosis
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000465,0.000000,0.000308
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10338 |
0% |
| America/Latino |
1 / 11526 |
0.00868% |
| East Asian |
0 / 8638 |
0% |
| Finnish |
2 / 6556 |
0.0305% |
| Non-Finnish |
35 / 66520 |
0.0526% |
| Other |
1 / 896 |
0.112% |
| South Asian |
1 / 16466 |
0.00607% |
| Total MAF |
40 / 120940 |
0.0331% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
2 / 24968 |
0.00801% |
| America/Latino |
7 / 35438 |
0.0198% |
| Ashkenazi Jewish |
0 / 10364 |
0% |
| East Asian |
0 / 19950 |
0% |
| Finnish |
11 / 25122 |
0.0438% |
| Non-Finnish |
74 / 128612 |
0.0575% |
| Other |
0 / 7224 |
0% |
| South Asian |
1 / 30614 |
0.00327% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14422 |
0% |
| Bulgarian |
8 / 2670 |
0.3% |
| Estonian |
2 / 4832 |
0.0414% |
| North-Western European |
29 / 50316 |
0.0576% |
| Southern European |
5 / 11600 |
0.0431% |
| Swedish |
6 / 26130 |
0.023% |
| Other non-Finnish European |
24 / 33064 |
0.0726% |
| Total MAF |
95 / 282292 |
0.0337% |
curated_classification = 3
Export Variant