Variant #0000474383 (NC_000019.9:g.11488725G>A, EPOR(NM_000121.3):c.1462C>T)
Individual ID |
00230975 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Probably affects function |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.11488725G>A |
DNA change (hg38) |
g.11378049G>A |
Published as |
- |
ISCN |
- |
DB-ID |
EPOR_000015 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Sokol L 1994 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/40 chromosomes |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00784 View details |
Owner |
Celeste Bento |
Database submission license |
No license selected |
Created by |
Celeste Bento |
Date created |
2012-08-09 18:21:52 +02:00 (CEST) |
Date last edited |
2012-08-14 19:26:32 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|