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     
+?/+? 6 c.603G>A p.(Trp201*) nonsense - - - r.(?) Parent #2 - pathogenic g.17350507C>T g.17024012C>T [c.598T > A(+) c.603G > A; p.Trp200Arg (+) p.Trp201X] - SDHB_000252 - PubMed: Buffet - - Germline ? - - - - DNA SEQ - - PGL - PubMed: Buffet LOH at SDHB locus in tumor DNA - - France - - - - - 1 Jean-Pierre Bayley
+?/. - c.603G>A p.(Trp201*) nonsense - - - r.(?) Unknown ACMG pathogenic g.17350507C>T - - - SDHB_000252 - PubMed: Mendonca 2021 - - Somatic - 0.045 - - - DNA SEQ-NG-I blood/FFPE tumor 160 genes RB1 Patient 86 PubMed: Mendonca 2021 - M - Brazil - - - - - 1 Vanessa Mendonça
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