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.
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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.-139G>T p.(=) - - - - r.(=) Unknown - benign g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 PubMed: Burnichon - - Germline - - - - - DNA SEQ - - PGL - - also germline variant in VHL (R135P) - - - - - - - - 3 Janneke Weiss
-/-? 1 c.-139G>T p.(=) - - - - r.(=) Unknown - benign g.17380653C>A g.17054158C>A '5 UTR - SDHB_000119 located in '5 UTR, Allelic freq controls 1/188; patients 2/646 - - - Unknown - - - - - DNA SEQ - - ? - - - - - - - - - - - 3 Janneke Weiss
-/. - c.-139G>T p.(=) - - - - r.(?) Unknown - benign g.17380653C>A g.17054158C>A SDHB(NM_003000.2):c.-139G>T - SDHB_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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