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.

4 entries on 1 page. Showing entries 1 - 4.
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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     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 7 c.727T>A p.(Cys243Ser) missense r.(?) SIFT 0.00; MT 950; AGVGD 111.67 Unknown - likely pathogenic g.17349141A>T g.17022646A>T TGC->AGC, C243S - SDHB_000112 affects highly conserved Fe-S cluster PubMed: Korpershoek - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PGL - - 1 isolated case - - Netherlands - - - - - 1 Jean-Pierre Bayley
+?/+? 7 c.727T>A p.(Cys243Ser) - r.(?) - Unknown - likely pathogenic g.17349141A>T g.17022646A>T - - SDHB_000112 affects highly conserved Fe-S cluster PubMed: Korpershoek - - Unknown - - - - - DNA DGGE - - pheochromocytoma - - - - - - - - - - - 1 Esther Korpershoek
+/. - c.727T>A p.(Cys243Ser) - r.(?) - Unknown - pathogenic g.17349141A>T g.17022646A>T - - SDHB_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.727T>A p.(Cys243Ser) - r.(?) - Unknown - pathogenic g.17349141A>T - - - SDHB_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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