Variant #0000474380 (NC_000019.9:g.11488727T>C, EPOR(NM_000121.3):c.1460A>G)
Individual ID |
00230972 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.11488727T>C |
DNA change (hg38) |
g.11378051T>C |
Published as |
- |
ISCN |
- |
DB-ID |
EPOR_000014 See all 3 reported entries |
Variant remarks |
Probable linkage between the N487S mutation and the erythroid pathology of the patients |
Reference |
PubMed: Le Couedic 1996; PubMed: Al-Sheikh 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
4/126 chromossomes |
Re-site |
BpmI+ |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00641 View details |
Owner |
Celeste Bento |
Database submission license |
No license selected |
Created by |
Celeste Bento |
Date created |
2012-08-09 17:03:00 +02:00 (CEST) |
Date last edited |
2012-08-15 11:18:21 +02:00 (CEST) |

Variant on transcripts
Screenings
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