Individual #00230974

ID_report -
Reference PubMed: Al-Sheikh 2008
Remarks -
Gender M
Consanguinity -
Country (France)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ECYT1
Owner name Celeste Bento
Database submission license No license selected
Created by Celeste Bento


Phenotypes

erythrocytosis, familial, type 1 (ECYT-1) (ECYT1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000173458 - erythrocytosis - - - 62y - - - Celeste Bento



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000232070 DNA SEQ - - EPOR 1 Celeste Bento



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA 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     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
19 Unknown ?/? - VUS g.11488727T>C g.11378051T>C - - EPOR_000014 Probable linkage between the N487S mutation and the erythroid pathology of the patients PubMed: Al-Sheikh 2008 - - Unknown - 4/126 chromossomes +(BpmI) - - Celeste Bento EPOR - - - - 8 NM_000121.3:c.1460A>G - r.(?) p.Asn487Ser - - - - - - - - - - - - - -
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