Variant #0000458927 (NC_000001.10:g.231506344C>T, EGLN1(NM_022051.2):c.1112G>A)
Individual ID |
00225507 |
Chromosome |
1 |
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.231506344C>T |
DNA change (hg38) |
g.231370598C>T |
Published as |
PHD2 G1112A |
ISCN |
- |
DB-ID |
EGLN1_000002 See all 2 reported entries |
Variant remarks |
Residue 371 is 3 amino acids away from the His374 iron-chelating residue |
Reference |
PubMed: Percy 2006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/400 chromosomes |
Re-site |
Tsp45I + |
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 |
2012-08-16 13:17:36 +02:00 (CEST) |
Date last edited |
2012-08-17 21:10:45 +02:00 (CEST) |

Variant on transcripts
Screenings
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