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     

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.21del p.(Ser8Profs*2) frameshift - - - r.(?) Unknown - pathogenic g.17380494del g.17053999del 155 delC (Frameshift) - SDHB_000010 - PubMed: Neumann - - Unknown - - - - - DNA SEQ, SSCA - - PGL - - 1 isolated case - - Germany - - - - - 2 Jean-Pierre Bayley
+?/+ - c.21del p.(Ser8Profs*2) - - - - r.(?) Unknown ACMG pathogenic g.17380494del g.17053999del - - SDHB_000010 ACMG grading: PVS1,PM2; reported in Neumann 2004. JAMA 292: 943 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
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