Individual #00267231

ID_report -
Reference data from the Globin Gene Server (HbVar)
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases thal
Owner name HbVar - Belinda Giardine and Ross Hardison
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-11-01 17:19:12 +01:00 (CET)
Date last edited 2019-11-08 09:27:59 +01:00 (CET)


Phenotypes

thalassemia (thal)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Owner     
0000205082 Hb variants - - Unknown - - - - HbVar - Belinda Giardine and Ross Hardison



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000268360 DNA SEQ - - HBD 1 HbVar - Belinda Giardine and Ross Hardison



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     
11 Unknown +?/. - VUS g.5255261A>G g.5234031A>G - - HBD_002029 - HbVar ? - - Germline - - - - - HbVar - Belinda Giardine and Ross Hardison HBD - - - - 2 NM_000519.3:c.275T>C Hb A2-Courbevoie r.(?) p.(Leu92Pro) - - - - - - - - - - - - - -
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