Individual #00306745

ID_report Fam1PatIII1
Reference PubMed: Achour 2020
Remarks -
Gender M
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases thal
Owner name Kees Harteveld
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-17 16:11:41 +02:00 (CEST)
Date last edited 2020-07-17 16:16:18 +02:00 (CEST)


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     
0000232574 alpha-thalassemia trait thal, alpha hemoglobin 142 (g/L), hematocrite 0.46 (L/L), mean cellular volume 81fl, mean corpuscular haemoglobin 24.8 pg, HBA2 2.4% Familial, autosomal dominant 54y - - - Kees Harteveld



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307880 DNA MLPA;SEQ - - HBA2, HBB, SUPT5H 1 Kees Harteveld



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     
16 Parent #1 +/. - pathogenic g.223122A>G g.173123A>G - - HBA2_000496 - PubMed: Achour 2020 - - Germline - - - - - Kees Harteveld HBA2 - - - - - NM_000517.4:c.96-2A>G - r.spl p.? - - - - - - - - - - - - - -
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