Variant #0000474391 (NC_000019.9:g.11488875_11488876del, EPOR(NM_000121.3):c.1311_1312del)
Individual ID |
00230983 |
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.11488875_11488876del |
DNA change (hg38) |
g.11378199_11378200del |
Published as |
1311_1312delTC |
ISCN |
- |
DB-ID |
EPOR_000001 See all 2 reported entries |
Variant remarks |
EPOR protein truncated for 77 amino acids |
Reference |
{GenBankJQ821734.1} |
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 |
2012-08-05 13:37:17 +02:00 (CEST) |
Date last edited |
2012-08-14 19:32:31 +02:00 (CEST) |

Variant on transcripts
Screenings
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