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     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

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Disease     

ID_report     

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VIP     

Data_av     

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Panel size     

Owner     
+?/+? 6 c.574T>C p.(Cys192Arg) missense r.(?) SIFT 0.00; MT 979; AGVGD 179.53 Parent #1 - likely pathogenic g.17350536A>G g.17024041A>G 708T/C (Cys192>Arg) - SDHB_000052 0/300 controls, affects highly conserved Fe-S cluster, USA PubMed: Neumann, PubMed: Neumann, PubMed: Timmers HJ, PubMed: Klein - - Germline - - - - - DNA SEQ, SSCA - - PGL - - 1 family 4 affected; 2 isolated cases - - Germany;Poland; United States - - - - - 4 Jean-Pierre Bayley
+?/+? 6 c.574T>C p.(Cys192Arg) missense r.(?) - Unknown - likely pathogenic g.17350536A>G g.17024041A>G p.Cys192Arg - SDHB_000052 affects highly conserved Fe-S cluster PubMed: Burnichon - - Germline - - - - - DNA SEQ - - ? - - 1 family 1 affected - - - - - - - - - Jean-Pierre Bayley
+/+? - c.574T>C p.(Cys192Arg) missense r.(?) - Unknown - pathogenic g.17350536A>G g.17024041A>G - - SDHB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.574T>C p.(Cys192Arg) missense r.(?) - Unknown other likely pathogenic g.17350536A>G - - - SDHB_000052 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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