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.
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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     
+?/+? 1_8 c.(?_-151)_(*159_?)del p.? deletion, large r.? - Unknown - pathogenic g.(?_17345217)_(17380665_?)del - whole SDHB gene deletion - SDHB_000087 - PubMed: Cascon - - Germline ? - - - - DNA PCRm, RT-PCRq - - PGL - - no family history; 1 isolated case - - Spain - - - - - 1 Jean-Pierre Bayley
+/+ _1_8_ c.-151_(*159{0} p.0? deletion, large r.0? - Unknown other pathogenic g.(?_17345217)_(17380665_?)del - whole gene deletion, c.(?_-151)_(*159_?)del - SDHB_000087 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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