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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGLN1 NM_022051.2 +/+ 3 c.1112G>A r.(?) p.(Arg371His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226586 DNA SEQ - - EGLN1 1 Celeste Bento