Variant #0000474370 (NC_000019.9:g.11488870C>T, EPOR(NM_000121.3):c.1317G>A)
Individual ID |
00230962 |
Chromosome |
19 |
Allele |
Unknown |
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.11488870C>T |
DNA change (hg38) |
g.11378194C>T |
Published as |
- |
ISCN |
- |
DB-ID |
EPOR_000004 |
Variant remarks |
Leads to a 70 amino acid truncation of the intracellular domain of the Epo receptor |
Reference |
PubMed: Rives S 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
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 |
2012-08-07 01:55:30 +02:00 (CEST) |
Date last edited |
2012-08-14 19:22:08 +02:00 (CEST) |

Variant on transcripts
Screenings
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