Variant #0000474370 (NC_000019.9:g.11488870C>T, EPOR(NM_000121.3):c.1317G>A)

Individual ID 00230962
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.11488870C>T
DNA change (hg38) g.11378194C>T
Published as -
ISCN -
DB-ID EPOR_000004
Variant remarks Leads to a 70 amino acid truncation of the intracellular domain of the Epo receptor
Reference PubMed: Rives S 2007
ClinVar ID -
dbSNP ID -
Origin De novo
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 2012-08-07 01:55:30 +02:00 (CEST)
Date last edited 2012-08-14 19:22:08 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 +/+ 8 c.1317G>A r.(?) p.(Trp439*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232058 DNA SEQ - - EPOR 1 Celeste Bento