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
Options




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