Variant #0000458940 (NC_000001.10:g.231557026G>C, EGLN1(NM_022051.2):c.609C>G)
Individual ID |
00225520 |
Chromosome |
1 |
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.231557026G>C |
DNA change (hg38) |
g.231421280G>C |
Published as |
- |
ISCN |
- |
DB-ID |
EGLN1_000011 |
Variant remarks |
not in 200 control chromosomes; JAK2 exon12 547insL+I540-F547dup8 |
Reference |
PubMed: Albiero 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/67patients |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Celeste Bento |
Database submission license |
No license selected |
Created by |
Celeste Bento |
Date created |
2012-08-23 19:05:08 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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