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.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

RNA change     

Predict-BioInf     

Allele     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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ID_report     

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Data_av     

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Panel size     

Owner     
?/+ 2 c.166_170del p.(Pro56Tyrfs*5) frameshift r.(?) - Parent #1 - pathogenic g.17371287_17371291del g.17044792_17044796del 300-4 del CCTCA (Frameshift) - SDHB_000025 - PubMed: Cascon, PubMed: Amar, PubMed: Neumann, PubMed: Mora, PubMed: Klein, PubMed: Persu, PubMed: Hermsen - - Unknown - - - - - DNA SEQ, SSCA - - PGL - - 3 families 5 affected; 9 isolated cases - - Spain; Belgium - - - - - 7 Jean-Pierre Bayley
?/+ 2 c.166_170del p.(Pro56Tyrfs*5) frameshift r.(?) - Unknown - pathogenic g.17371287_17371291del g.17044792_17044796del p.Pro56TyrfsX5 - SDHB_000025 - PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 2 affected - - - - - - - - - Jean-Pierre Bayley
+?/+? 2 c.166_170del p.(Pro56Tyrfs*5) frameshift r.(?) - Unknown - pathogenic g.17371287_17371291del g.17044792_17044796del - - SDHB_000025 - PubMed: Gill - - Germline ? - - - - DNA SEQ - - cancer - - 1 isolated case - - Australia - - - - - 1 Jean-Pierre Bayley
+/+? 2 c.166_170del p.(Pro56Tyrfs*5) - r.(?) - Unknown - pathogenic g.17371286_17371290del g.17044792_17044796del 300-4delCCTCA - SDHB_000025 - - - - Germline ? - - - - DNA SEQ - - PGL4 - - - F yes Argentina - - - - - 1 Gabriela Sanso
+/+ 2 c.166_170del p.(Pro56Tyrfs*5) frameshift r.(?) - Unknown other pathogenic g.17371286_17371290del - - - SDHB_000025 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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