Variant #0000474387 (NC_000019.9:g.11488900dup, EPOR(NM_000121.3):c.1288dup)
Individual ID |
00230979 |
Chromosome |
19 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.11488900dup |
DNA change (hg38) |
g.11378224dup |
Published as |
5974insG |
ISCN |
- |
DB-ID |
EPOR_000017 |
Variant remarks |
Truncated EPOR protein lacking the last 64 amino acids of the C-terminal domain |
Reference |
PubMed: Sokol L 1995 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
4/84 chromosomes |
Re-site |
BsmFI+ |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Celeste Bento |
Database submission license |
No license selected |
Created by |
Celeste Bento |
Date created |
2012-08-10 13:44:57 +02:00 (CEST) |
Date last edited |
2020-07-15 12:23:20 +02:00 (CEST) |

Variant on transcripts
Screenings
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