Variant #0000474379 (NC_000019.9:g.11488903del, EPOR(NM_000121.3):c.1285del)
Individual ID |
00230971 |
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.11488903del |
DNA change (hg38) |
g.11378227del |
Published as |
1285delC |
ISCN |
- |
DB-ID |
EPOR_000013 |
Variant remarks |
EPOR protein - introduction of 23 aa followed by a premature stop codon |
Reference |
PubMed: Al-Sheikh 2008 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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 |
2012-08-09 14:17:36 +02:00 (CEST) |
Date last edited |
2020-07-15 12:23:21 +02:00 (CEST) |

Variant on transcripts
Screenings
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