Individual #00079464

ID_report -
Reference PubMed: Welander, PubMed: Welander
Remarks 20 year old female
Gender -
Consanguinity -
Country Sweden
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases PGL
Owner name Jean-Pierre Bayley
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez


Phenotypes

paraganglioma (PGL) (PGL)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Cancer/Sub_type     

Owner     
0000059188 - - - Unknown - - - - - PGL Jean-Pierre Bayley



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079537 DNA SEQ-NG - - SDHA 1 Jean-Pierre Bayley



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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
5 Parent #1 ?/. - VUS g.224547C>T g.224432C>T - - SDHA_000056 - PubMed: Welander, PubMed: Welander - - Unknown - - - 0 - Jean-Pierre Bayley SDHA - - - - - 3 NM_004168.2:c.223C>T - r.(?) p.(Arg75*) - - - - - - - - - - - - - - - - - - - -
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