Individual #00066296

ID_report -
Reference -
Remarks Fam49635
Gender -
Consanguinity -
Country (Netherlands)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases thalbeta
Owner name Kees Harteveld
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-03-25 12:31:54 +01:00 (CET)
Date last edited N/A


Phenotypes

thalassemia, beta (thalassemia, Hispanic gamma-delta-beta) (thalbeta)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000051474 - - - Familial, autosomal recessive - - - - - Kees Harteveld



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000066450 DNA SEQ - - HBB 5 Kees Harteveld



Variants

5 entries on 1 page. Showing entries 1 - 5.
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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 Both (homozygous) -/. - benign g.5247141G>A g.5225911G>A - - HBB_001950 - - - - Germline - - - - - Kees Harteveld HBB - - - - 2i NM_000518.4:c.316-185C>T - r.(=) p.(=) - - - - - - - - - - - - - -
11 Both (homozygous) -/. - benign g.5247733A>C g.5226503A>C - - HBB_001846 - - - - Germline - - - - - Kees Harteveld HBB - - - - 2i NM_000518.4:c.315+74T>G - r.(=) p.(=) - - - - - - - - - - - - - -
11 Both (homozygous) -/. - benign g.5247791C>G g.5226561C>G - - HBB_001945 - - - - Germline - - - - - Kees Harteveld HBB - - - - 2i NM_000518.4:c.315+16G>C - r.(=) p.(=) - - - - - - - - - - - - - -
11 Both (homozygous) +/. - pathogenic g.5248232T>A g.5227002T>A - - HBB_000678 - - - - Germline - - - - - Kees Harteveld HBB - - - - 1 NM_000518.4:c.20A>T - r.(?) p.(Glu7Val) - - - - - - - - - - - - - -
11 Both (homozygous) -/. - benign g.5248243A>G g.5227013A>G - - HBB_001942 - - - - Germline - - - - - Kees Harteveld HBB - - - - 1 NM_000518.4:c.9T>C - r.(=) p.(=) - - - - - - - - - - - - - -
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