Classification
Category 4
curation
CMH MAF
19 /
13144 samples
(0.145%)
19 het.,
0 hom.
(100%)
19 /
26288 total alleles
(0.0723%)
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 / 24958 |
0.012% |
| America/Latino |
24 / 35438 |
0.0677% |
| Ashkenazi Jewish |
0 / 10368 |
0% |
| East Asian |
5 / 19954 |
0.0251% |
| Finnish |
1 / 25110 |
0.00398% |
| Non-Finnish |
100 / 129136 |
0.0774% |
| Other |
3 / 7220 |
0.0416% |
| South Asian |
0 / 30616 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
5 / 14424 |
0.0347% |
| Bulgarian |
1 / 2670 |
0.0375% |
| Estonian |
0 / 4830 |
0% |
| North-Western European |
34 / 50786 |
0.0669% |
| Southern European |
34 / 11606 |
0.293% |
| Swedish |
8 / 26134 |
0.0306% |
| Other non-Finnish European |
23 / 33110 |
0.0695% |
| Total MAF |
136 / 282800 |
0.0481% |
curated_classification = 4
Export Variant