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)     

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?/+? 7 c.761C>T p.(Pro254Leu) - r.(?) SIFT 0.00; MT 981; AGVGD 97.78 Parent #1 - likely pathogenic g.17349107G>A g.17022612G>A - - SDHB_000104 affects highly conserved Fe-S cluster PubMed: Lima - - Germline - - - - - DNA SEQ, SSCA - - PGL - - 1 family 2 affected - - Spain; Portugal - - - - - 2 Jean-Pierre Bayley
?/+? 7 c.761C>T p.(Pro254Leu) - r.(?) - Unknown - VUS g.17349107G>A g.17022612G>A p.Pro254Leu - SDHB_000104 affects highly conserved Fe-S cluster PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 1 affected - - - - - - - - - Jean-Pierre Bayley
+?/? - c.761C>T p.(Pro254Leu) - r.(?) SIFT 0.00 Unknown ACMG VUS g.17349107G>A g.17022612G>A - - SDHB_000104 ACMG grading: PP1,PM1,PP3,PP5,PM2; Hermsen ; 2010. Cell Oncol 32: 275 germline mutation in paragnglioma/ carotid body tumor, VUS probably pathogenic; Lima (2007) J Clin Endocrinol Metab 92: 4853: germline mutation in cervical paragangliomas ; Niemeijer (2017) Eur J Endocrinol 177: 115: detected in dutch pateints with paragangliome, classified as pathogenic - - rs948484408 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
?/? 7 c.761C>T p.(Pro254Leu) missense r.(?) SIFT 0.00; MT 981; AGVGD 97.78 Unknown other VUS g.17349107G>A - - - SDHB_000104 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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