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     

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RNA change     

Predict-BioInf     

Allele     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Owner     
+?/+? 3 c.260T>C p.(Leu87Ser) missense r.(?) SIFT 0.00; MT 956; AGVGD 144.08 Parent #1 - likely pathogenic g.17359581A>G g.17033086A>G 394T-->C (L88S), 394T/C (L87S),c.263T>C(L88S) - SDHB_000037 Found in multiple patients, 0/300 controls, 1/100 controls PubMed: Astuti, PubMed: Neumann, PubMed: Bauters - - Unknown - - - - - DNA SSCA, SEQ - - PGL - - 0/300 controls, 1/100 controls; 2 families 8 affected; 2 isolated cases - - United Kingdom (Great Britain); Germany - - - - - 2 Jean-Pierre Bayley
+?/+? 3 c.260T>C p.(Leu87Ser) missense r.(?) SIFT 0.00 Unknown - pathogenic g.17359581A>G g.17033086A>G p.Leu87Ser - SDHB_000037 - PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 1 affected - - - - - - - - - Jean-Pierre Bayley
+?/+? 3 c.260T>C p.(Leu87Ser) missense r.(?) - Unknown other likely pathogenic g.17359581A>G - - - SDHB_000037 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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