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.8C>G p.(Ala3Gly) missense 0.564 60.00 0.15 r.(?) Unknown - benign g.17380507G>C g.17054012G>C - - SDHB_000130 Freq controls 0/1400 chromosomes, tolerated by SIFT analysis, conserved. PubMed: Ni - - Germline - 1.1%/8.5% - - - DNA SEQ - - ? - - Found in Cowden Syndrome; 1 isolated case - - United States; France - - - - - 1 Jean-Pierre Bayley
?/-? 1 c.8C>G p.(Ala3Gly) missense - - 0.15 r.(?) Unknown - benign g.17380507G>C g.17054012G>C - - SDHB_000130 Allelic freq: 1134 in gnomAD Burnichon - submitted - rs11203289 Germline - 1.1% - - - DNA SEQ - - ? - - - - - - - - - - - - Jean-Pierre Bayley
-/. - c.8C>G p.(Ala3Gly) - - - - r.(?) Unknown - benign g.17380507G>C - SDHB(NM_003000.2):c.8C>G (p.A3G) - SDHB_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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