Full data view for gene SDHB

LUMC 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)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

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     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 1i c.72+1G>A r.spl? p.(=) 0 splicing affected? Unknown - likely pathogenic g.17380442C>T g.17053947C>T Splicesite - SDHB_000171 - PubMed: Burnichon - - Germline - - - 0 - DNA SEQ - - ? - - 1 family 1 affected - - France - - 0 - - 0 Jean-Pierre Bayley
+?/+? 1i c.72+1G>A r.spl? p.(?) - splicing affected Unknown other likely pathogenic g.17380442C>T - - - SDHB_000171 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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