Full data view for gene EPOR

Information The variants shown are described using the NM_000121.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 8 c.1278C>G r.(?) p.(Tyr426*) Unknown - pathogenic g.11488909G>C g.11378233G>C - - EPOR_000007 EPOR protein truncated by 83 amino acids PubMed: Kralovics 1998 - - Germline - - - - - DNA SEQ - - ECYT1 - PubMed: Kralovics 1998 family, 4 affected M - (United States) - 58y - - - 4 Celeste Bento
+/+ 8 c.1278C>G r.(?) p.(Tyr426*) Unknown - pathogenic g.11488909G>C g.11378233G>C 1414C→G - EPOR_000007 EPOR protein truncated by 83 amino acids PubMed: Rives S 2007 - - Germline - 1/14 patients - - - DNA SEQ - - ECYT1 - PubMed: Rives S 2007 family, 3 affected F - (Spain) - - - - - 3 Celeste Bento
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