Variant #0000474385 (NC_000019.9:g.11488909G>C, EPOR(NM_000121.3):c.1278C>G)

Individual ID 00230977
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.11488909G>C
DNA change (hg38) g.11378233G>C
Published as 1414C→G
ISCN -
DB-ID EPOR_000007 See all 2 reported entries
Variant remarks EPOR protein truncated by 83 amino acids
Reference PubMed: Rives S 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/14 patients
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPOR NM_000121.3 +/+ 8 c.1278C>G r.(?) p.(Tyr426*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232073 DNA SEQ - - EPOR 1 Celeste Bento