Full data view for gene SDHB

Leiden University Medical Center SDHB gene variant and NGSnPPGL study group (ENS@T/PRESSOR) database
Information The variants shown are described using the NM_003000.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

Predict/MutationTaster     

Predict/AGVGD     

Predict/SIFT     

RNA change     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 6 c.623G>A p.(Gly208Glu) missense - - - r.(?) Parent #1 - pathogenic g.17350487C>T g.17023992C>T G208E - SDHB_000078 - PubMed: Benn - - Germline - - - - - DNA SEQ - - pheochromocytoma - - 2 families 7 affected - - United States - - - - - 1 Jean-Pierre Bayley
+/+? 6 c.623G>A p.(Gly208Glu) missense 0.961 97.85 0.00 r.(?) Unknown other pathogenic g.17350487C>T - - - SDHB_000078 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Likely pathogenic - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.