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.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Predict/AGVGD     

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DNA change (hg38)     

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Owner     
?/? 3 c.278G>A p.(Cys93Tyr) missense - - - r.(?) Unknown - likely pathogenic g.17359563C>T g.17033068C>T - - SDHB_000146 affects highly conserved Fe-S cluster PubMed: Cascon - - Germline - - - - - DNA SEQ - - pheochromocytoma - - 1 isolated case - - Spain - - - - - 1 Jean-Pierre Bayley
?/+? 3 c.278G>A p.(Cys93Tyr) missense 0.945 193.72 0.00 r.(?) Unknown other VUS g.17359563C>T - - - SDHB_000146 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Small polar AA to large charged polar AA. Highly conserved, v. high Grantham score (180). Located in highly conserved 2Fe-2S binding region. Likely pathogenic in opinion of curator. - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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