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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EGLN1 NM_022051.2 +?/+? 1 c.609C>G r.(?) p.(Asn203Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000226599 DNA SEQ - - EGLN1 1 Celeste Bento