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     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/+ 6 c.591del p.(Ser198Alafs*22) frameshift r.(?) - Parent #1 - pathogenic g.17350522del g.17024027del c.588delC, C196fsX219, c.591delC, S198fsX220, 725 delC (Frameshift ex6), - SDHB_000003 United Kingdom (Great Britain), 0/100 controls PubMed: Astuti, PubMed: Gimenez-Roqueplo, PubMed: Benn, PubMed: Fakhry - - Germline - - - - - DNA SEQ, SSCA - - PGL - - OMIM185470:0003; 1 family 1 affected; 3 isolated cases - - France; United Kingdom (Great Britain); United States - - - - - 4 Jean-Pierre Bayley
?/+ 6 c.591del p.(Ser198Alafs*22) frameshift r.(?) - Unknown - pathogenic g.17350522del g.17024027del p.Ser198AlafsX22 - SDHB_000003 - PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - OMIM185470:0003; 2 families 2 affected - - - - - - - - - Jean-Pierre Bayley
+/+ 6 c.591del p.(Ser198Alafs*22) frameshift r.(?) - Unknown other pathogenic g.17350519del - - - SDHB_000003 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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