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.

5 entries on 1 page. Showing entries 1 - 5.
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     
+?/+? 7 c.649C>T p.(Arg217Cys) missense r.(?) SIFT 0.00; MT 988; AGVGD 179.53 Parent #1 - likely pathogenic g.17349219G>A g.17022724G>A c.647, p.R217C - SDHB_000086 USA (poss. somatic) PubMed: Braun, PubMed: Klein, PubMed: Vijan - - Germline ? - - - - DNA SEQ - - PGL - - 1 family 2 affected; 2 isolated cases M - Germany; United States - - - - - 3 Jean-Pierre Bayley
+?/+? 7 c.649C>T p.(Arg217Cys) missense r.(?) - Unknown - likely pathogenic g.17349219G>A g.17022724G>A p.Arg217Cys - SDHB_000086 - PubMed: Burnichon - - Germline ? - - - - DNA SEQ - - ? - - 1 family 1 affected - - - - - - - - - Jean-Pierre Bayley
+/+? - c.649C>T p.(Arg217Cys) - r.(?) - Unknown - pathogenic g.17349219G>A g.17022724G>A SDHB(NM_003000.3):c.649C>T (p.R217C) - SDHB_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? - c.649C>T p.(Arg217Cys) missense r.(?) - Unknown - pathogenic g.17349219G>A g.17022724G>A SDHB(NM_003000.3):c.649C>T (p.R217C) - SDHB_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.649C>T p.(Arg217Cys) missense r.(?) - Unknown other likely pathogenic g.17349219G>A - - - SDHB_000086 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.