Classification
Category 4
non_synonymous
CMH MAF
12 /
6955 samples
(0.173%)
12 het.,
0 hom.
(100%)
12 /
13910 total alleles
(0.0863%)
Genes
gene: RERE
synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599
NM_001042681.1
[CDS]
hgvs_c: NM_001042681.1:c.697G>A
reference AA: V
variant AA: I
reference codon: Gtt
variant codon: Att
cDNA pos: 1322
CDS pos: 697
translation impact: non_synonymous
protein sequence:
NP_001036146.1
AA pos: 233
hgvs_p: NP_001036146.1:p.Val233Ile
blosum: 3
PolyPhen2: possibly_damaging (0.766)
NM_012102.3
[CDS]
Reportable
hgvs_c: NM_012102.3:c.697G>A
reference AA: V
variant AA: I
reference codon: Gtt
variant codon: Att
cDNA pos: 1507
CDS pos: 697
translation impact: non_synonymous
protein sequence:
NP_036234.3
AA pos: 233
hgvs_p: NP_036234.3:p.Val233Ile
blosum: 3
PolyPhen2: possibly_damaging (0.766)
dbSNP
rs147116390
TOPMED_MAF = 0.00062914118246687
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001047,0.000000,0.000692
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
0 / 10394 |
0% |
| America/Latino |
7 / 11576 |
0.0605% |
| East Asian |
4 / 8652 |
0.0462% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
57 / 66696 |
0.0855% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16510 |
0% |
| Total MAF |
68 / 121350 |
0.056% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
3 / 24022 |
0.0125% |
| America/Latino |
23 / 34416 |
0.0668% |
| Ashkenazi Jewish |
0 / 10150 |
0% |
| East Asian |
5 / 18870 |
0.0265% |
| Finnish |
1 / 25782 |
0.00388% |
| Non-Finnish |
102 / 126650 |
0.0805% |
| Other |
3 / 6466 |
0.0464% |
| South Asian |
0 / 30782 |
0% |
| Total MAF |
137 / 277138 |
0.0494% |
Export Variant