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     

RNA change     

Predict-BioInf     

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     

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Remarks     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.17_42dup p.(Ala15Profs*4) frameshift r.(?) - Parent #1 - pathogenic g.17380473_17380498dup g.17053978_17054003dup c. 17_42dup26, c.17_42dup - SDHB_000276 Variant Error [ESYNTAX]: This genomic variant has an error (char 36: expected EOF). Please fix this entry and then remove this message. PubMed: Jafri, PubMed: Miettinen - - Unknown - - - - - DNA PCR, MLPA - - cancer, PGL - PubMed: Jafri, PubMed: Miettinen SDHA positive GIST; ""PCR based mutation scanning"" - - United Kingdom (Great Britain);United States - - - - - 2 Jean-Pierre Bayley
+/+ 1 c.17_42dup p.(Ala15Profs*4) frameshift r.(?) - Unknown other pathogenic g.17380473_17380498dup - - - SDHB_000276 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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