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)     

Protein     

Predicted     

RNA change     

Predict-BioInf     

Allele     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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ID_report     

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Panel size     

Owner     
?/+? 3 c.269G>A p.(Arg90Gln) missense r.(?) SIFT 0.00; MT 918; AGVGD 42.81 Parent #1 - likely pathogenic g.17359572C>T g.17033077C>T R90Q - SDHB_000099 - PubMed: Castellano, PubMed: Hermsen - - Unknown - - - - - DNA SEQ - - PGL - - 2 isolated cases - - Italy; Spain - - - - - 2 Jean-Pierre Bayley
?/? 3 c.269G>A p.(Arg90Gln) missense r.(?) - Unknown - likely pathogenic g.17359572C>T g.17033077C>T R90Q - SDHB_000099 - - - - Unknown - - - - - DNA SEQ - - PGL - - 1 family 4 affected; 1 isolated case - - China - - - - - 1 Yang Zha
?/? 3 c.269G>A p.(Arg90Gln) missense r.(?) SIFT 0.00 Unknown other VUS g.17359572C>T - - - SDHB_000099 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR). Align GVGD: Class C65 (most likely to affect function). Similar AAs but Asn uncharged. Highly conserved, in highly conserved region close to 2FE-2S binding site. Medium to low Grantham score (86). VUS - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269G>A p.(Arg90Gln) - r.(?) - Unknown - VUS g.17359572C>T - - - SDHB_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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