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.

3 entries on 1 page. Showing entries 1 - 3.
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     
+/+ 1 c.17_35del p.(Ala6Glyfs*65) frameshift - - - r.(?) Parent #1 - pathogenic g.17380482_17380500del g.17053987_17054005del p.Ala6fs - SDHB_000109 - PubMed: Amar - - Unknown - - - - - DNA SEQ - - PGL - - 1 isolated case - - France - - - - - 1 Jean-Pierre Bayley
+/+ 1 c.17_35del p.(Ala6Glyfs*65) frameshift - - - r.(?) Unknown - pathogenic g.17380482_17380500del g.17053987_17054005del p.Ala6GlyfsX65 - SDHB_000109 - PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 2 affected - - - - - - - - - Jean-Pierre Bayley
+/+ 1 c.17_35del p.(Ala6Glyfs*65) frameshift - - - r.(?) Unknown other pathogenic g.17380480_17380498del - - - SDHB_000109 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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