Classification
Category 4
curation
CMH MAF
20 /
13144 samples
(0.152%)
20 het.,
0 hom.
(100%)
20 /
26288 total alleles
(0.0761%)
Genes
gene: RERE
synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599
NM_001042681.1
[CDS]
hgvs_c: NM_001042681.1:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 660
CDS pos: 35
translation impact: in_frame_indel
protein sequence:
NP_001036146.1
AA pos: 12
hgvs_p: NP_001036146.1:p.Asp10_Lys11dup
blosum: 2
NM_012102.3
[CDS]
Reportable
hgvs_c: NM_012102.3:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 845
CDS pos: 35
translation impact: in_frame_indel
protein sequence:
NP_036234.3
AA pos: 12
hgvs_p: NP_036234.3:p.Asp10_Lys11dup
blosum: 2
dbSNP
rs751268683
TOPMED_MAF = 0.00128217380224260
rs764357464
rs368488556
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
73 / 24546 |
0.297% |
| America/Latino |
6 / 35162 |
0.0171% |
| Ashkenazi Jewish |
0 / 10320 |
0% |
| East Asian |
3 / 19908 |
0.0151% |
| Finnish |
1 / 24976 |
0.004% |
| Non-Finnish |
68 / 128264 |
0.053% |
| Other |
1 / 7148 |
0.014% |
| South Asian |
14 / 30540 |
0.0458% |
| Korean |
1 / 3818 |
0.0262% |
| Japanese |
0 / 150 |
0% |
| Other East Asian |
1 / 14380 |
0.00695% |
| Bulgarian |
0 / 2646 |
0% |
| Estonian |
0 / 4822 |
0% |
| North-Western European |
29 / 50384 |
0.0576% |
| Southern European |
8 / 11562 |
0.0692% |
| Swedish |
16 / 26060 |
0.0614% |
| Other non-Finnish European |
15 / 32790 |
0.0457% |
| Total MAF |
166 / 280864 |
0.0591% |
curated_classification = 4
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