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.

4 entries on 1 page. Showing entries 1 - 4.
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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.32G>A p.(Arg11His) missense 0.627 28.82 0.15 r.(?) Unknown - likely benign g.17380483C>T g.17053988C>T R11H - SDHB_000141 0/600 chromosomes PubMed: Ricketts - - Germline - - - - - DNA SEQ - - cancer - - Very rare polymorphism?; 1 isolated case - - United Kingdom (Great Britain) - - - - - 1 Jean-Pierre Bayley
-?/. - c.32G>A p.(Arg11His) - - - - r.(?) Unknown - likely benign g.17380483C>T g.17053988C>T SDHB(NM_003000.3):c.32G>A (p.R11H) - SDHB_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.32G>A p.(Arg11His) missense - - - r.(?) Unknown other likely benign g.17380483C>T - - - SDHB_000141 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32G>A p.(Arg11His) - - - - r.(?) Unknown - likely benign g.17380483C>T - - - SDHB_000141 - - - rs111430410 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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