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.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

RNA change     

Predict-BioInf     

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     
+?/+ 2 c.137G>A p.(Arg46Gln) missense r.(?) SIFT 0.00; MT 911; AGVGD 85.11 Parent #1 - pathogenic g.17371319C>T g.17044824C>T g271a (R46Q), c.137G>A (R46Q) - SDHB_000022 0/50 controls, Italy, and other countries PubMed: Gimenez-Roqueplo, PubMed: Gimenez-Roqueplo, PubMed: Allibhai, PubMed: Benn, PubMed: Amar, PubMed: Benn, PubMed: Castellano, PubMed: Takekoshi - - Unknown - - - - - DNA SEQ, SSCA - - PGL - - 0/50 controls, Italy, and other countries PubMed: Klein, PubMed: Ricketts = RCC, PubMed: Ghayee; 6 families 14 affected; 6 isolated cases - - France - - - - - 12 Jean-Pierre Bayley
+?/+ 2 c.137G>A p.(Arg46Gln) - r.(?) - Unknown - pathogenic g.17371319C>T g.17044824C>T p.Arg46Gln - SDHB_000022 - PubMed: Burnichon, PubMed: Timmers - - Germline - - - - - DNA SEQ - - ? - - 4 families 4 affected; 1 isolated case - - - - - - - - 2 Jean-Pierre Bayley
+/+ 2 c.137G>A p.(Arg46Gln) missense r.(?) - Unknown other pathogenic g.17371319C>T - - - SDHB_000022 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>A p.(Arg46Gln) - r.(?) - Unknown - pathogenic g.17371319C>T - - - SDHB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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