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     

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     

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Disease     

ID_report     

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Remarks     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4i c.423+1G>C p.(?) splicing affected r.spl? - Parent #1 - pathogenic g.17355094C>G g.17028599C>G (IVS4) Aberrant splicing? - SDHB_000073 - PubMed: Douwes Dekker, PubMed: Amar, PubMed: Amar, PubMed: Pasini, PubMed: Hes - - Germline - - - - - DNA SEQ - - cancer, PGL - - 2 families 2 affected - - France - - - - - 5 Jean-Pierre Bayley
+/+ 4i c.423+1G>C p.(?) splicing affected r.spl? - Unknown - pathogenic g.17355094C>G g.17028599C>G Splicesite - SDHB_000073 - PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 3 families 3 affected - - - - - - - - - Jean-Pierre Bayley
+/+ 4i c.423+1G>C p.(?) splicing affected r.spl? - Unknown other pathogenic g.17355094C>G - - - SDHB_000073 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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