Classification
Category 4
non_synonymous
CMH MAF
45 /
9594 samples
(0.469%)
45 het.,
0 hom.
(100%)
45 /
19188 total alleles
(0.235%)
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 |
348 / 23050 |
1.51% |
| America/Latino |
104 / 33804 |
0.308% |
| Ashkenazi Jewish |
8 / 9512 |
0.0841% |
| East Asian |
0 / 18662 |
0% |
| Finnish |
1 / 24506 |
0.00408% |
| Non-Finnish |
48 / 115960 |
0.0414% |
| Other |
22 / 6160 |
0.357% |
| South Asian |
0 / 30026 |
0% |
| Total MAF |
531 / 261680 |
0.203% |
Export Variant