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     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Owner     
+?/+ 7 c.758G>A p.(Cys253Tyr) missense r.(?) SIFT 0.00; MT 955; AGVGD 193.72 Parent #1 - pathogenic g.17349110C>T g.17022615C>T - - SDHB_000083 affects highly conserved Fe-S cluster PubMed: Amar, PubMed: Amar - - Germline - - - - - DNA SEQ - - PGL - - 1 isolated case - - France - - - - - 1 Jean-Pierre Bayley
+?/+ 7 c.758G>A p.(Cys253Tyr) missense r.(?) - Unknown - pathogenic g.17349110C>T g.17022615C>T p.Cys253Tyr - SDHB_000083 LOH at SDHB locus; SDHB protein expression=0, affects highly conserved Fe-S cluster PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 1 affected - - - - - - - - - Jean-Pierre Bayley
+/+ 7 c.758G>A p.(Cys253Tyr) missense r.(?) - Unknown other pathogenic g.17349110C>T - - - SDHB_000083 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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