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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
+?/+? 4 c.343C>T p.(Arg115*) nonsense - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A R115X - SDHB_000042 - PubMed: Timmers HJ 2007 - - Germline - - - - - DNA SEQ - - PGL - - 1 family 2 affected F - Netherlands - - - - - 1 Jean-Pierre Bayley
+?/+? 4 c.343C>T p.(Arg115*) nonsense - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A R115X - SDHB_000042 - PubMed: Benn 2006 - - Germline - - - - - DNA SEQ - - PGL - - 1 family 2 affected F - Netherlands - - - - - 1 Jean-Pierre Bayley
+?/+? 4 c.343C>T p.(Arg115*) nonsense - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A R115X - SDHB_000042 - PubMed: Bayley 2006 - - Germline - - - - - DNA SEQ - - PGL - - 1 family 2 affected F - Netherlands - - - - - 1 Jean-Pierre Bayley
+/+ 4 c.343C>T p.(Arg115*) - - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A R115X - SDHB_000042 - - - - Unknown - - - - - DNA PCR - - pheochromocytoma - - 5 SDHB heterozygotes in this family have remained clinically asymptomatic to at least age 68y. The index case is the only affected individual with extra-adrenal pheo at age 37. - - Netherlands; United States; Canada - - - - - 1 Laura Palma
+/. - c.343C>T p.(Arg115Ter) - - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A SDHB(NM_003000.2):c.343C>T (p.R115*) - SDHB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.343C>T p.(Arg115Ter) - - - - r.(?) Unknown - pathogenic g.17355175G>A g.17028680G>A SDHB(NM_003000.2):c.343C>T (p.R115*) - SDHB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.343C>T p.(Arg115*) nonsense - - - r.(?) Parent #1 - pathogenic g.17355175G>A g.17028680G>A - - SDHB_000042 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Argentina - - - - - 1 Gabriela Sanso
+?/+? 4 c.343C>T p.(Arg115*) nonsense - - - r.(?) Unknown other likely pathogenic g.17355175G>A - - - SDHB_000042 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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