Classification
Category 4
curation
CMH MAF
55 /
13144 samples
(0.418%)
55 het.,
0 hom.
(100%)
55 /
26288 total alleles
(0.209%)
Genes
gene: RERE
synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599
NM_001042681.1
[CDS]
hgvs_c: NM_001042681.1:c.4528C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 5153
CDS pos: 4528
translation impact: non_synonymous
protein sequence:
NP_001036146.1
AA pos: 1510
hgvs_p: NP_001036146.1:p.Pro1510Thr
blosum: -1
PolyPhen2: unknown (0.0)
NM_001042682.1
[CDS]
hgvs_c: NM_001042682.1:c.2866C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 3452
CDS pos: 2866
translation impact: non_synonymous
protein sequence:
NP_001036147.1
AA pos: 956
hgvs_p: NP_001036147.1:p.Pro956Thr
blosum: -1
SIFT: deleterious_low_confidence (0.04)
PolyPhen2: unknown (0.0)
NM_012102.3
[CDS]
Reportable
hgvs_c: NM_012102.3:c.4528C>A
reference AA: P
variant AA: T
reference codon: Ccc
variant codon: Acc
cDNA pos: 5338
CDS pos: 4528
translation impact: non_synonymous
protein sequence:
NP_036234.3
AA pos: 1510
hgvs_p: NP_036234.3:p.Pro1510Thr
blosum: -1
PolyPhen2: unknown (0.0)
dbSNP
rs115891071
GMAF = 0.004593
TOPMED_MAF = 0.00549503058103975
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000466,0.014545,0.005236
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
144 / 8082 |
1.78% |
| America/Latino |
22 / 10748 |
0.205% |
| East Asian |
0 / 8060 |
0% |
| Finnish |
2 / 5446 |
0.0367% |
| Non-Finnish |
26 / 58792 |
0.0442% |
| Other |
5 / 744 |
0.672% |
| South Asian |
0 / 13352 |
0% |
| Total MAF |
199 / 105224 |
0.189% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
358 / 23320 |
1.54% |
| America/Latino |
108 / 34706 |
0.311% |
| Ashkenazi Jewish |
8 / 9658 |
0.0828% |
| East Asian |
0 / 19606 |
0% |
| Finnish |
0 / 23802 |
0% |
| Non-Finnish |
53 / 117708 |
0.045% |
| Other |
14 / 6808 |
0.206% |
| South Asian |
0 / 29830 |
0% |
| Korean |
0 / 3812 |
0% |
| Japanese |
0 / 102 |
0% |
| Other East Asian |
0 / 14132 |
0% |
| Bulgarian |
2 / 2450 |
0.0816% |
| Estonian |
0 / 4754 |
0% |
| North-Western European |
18 / 44238 |
0.0407% |
| Southern European |
16 / 11026 |
0.145% |
| Swedish |
1 / 25766 |
0.00388% |
| Other non-Finnish European |
16 / 29474 |
0.0543% |
| Total MAF |
541 / 265438 |
0.204% |
curated_classification = 4
Export Variant