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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 1_2i c.(?_-151)_(200+1_201-1)del r.spl? p.? 0 - Unknown - pathogenic g.(17359641_17371255)_(17380665_?)del - - - SDHB_000202 deletion of exons 1 + 2 PubMed: Kodama - - Germline - - - 0 - DNA MLPA - - pheochromocytoma - - 1 isolated case - - Japan - - 0 - - 1 Jean-Pierre Bayley
+/. 1_2i c.(?_-151)_(200+1_201-1)del r.? p.? - - Parent #1 - pathogenic g.(17359641_17371255)_(17380665_?)del - c.[-?_200+?del];[=] - SDHB_000202 - PubMed: Rattenberry - - Unknown - - - 0 - DNA SEQ-NG - - PGL - PubMed: Rattenberry - - - United Kingdom (Great Britain) - - 0 - - 1 Jean-Pierre Bayley
+/+ _1_2i c.-151_(200+1_201-1){0} r.0? p.0? - deletion, large Unknown other pathogenic g.(17359641_17371255)_(17380665_?)del - deletion of exons 1-2, c.(?_-151)_(200+1_201-1)del - SDHB_000202 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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