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)     

Protein     

Predicted     

Predict/MutationTaster     

Predict/AGVGD     

Predict/SIFT     

RNA change     

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     
+?/+? 1_7i c.(?_-151)_(765+1_766-1)del p.? deletion, large - - - r.? Parent #1 - pathogenic g.(17345454_17349102)_(17380665_?)del - Deletion of exon 1 - 7 - SDHB_000280 - PubMed: Buffet - - Germline ? - - - - DNA SEQ - - PGL - PubMed: Buffet - - - France - - - - - 1 Jean-Pierre Bayley
+/+ _1_7i c.-151_(765+1_766-1){0} p.0? deletion, large - - - r.0? Unknown other pathogenic g.(17345454_17349102)_(17380665_?)del - deletion of exons 1 to 7, c.(?_-151)_(765+1_766-1)del - SDHB_000280 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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