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.

5 entries on 1 page. Showing entries 1 - 5.
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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 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large Unknown - pathogenic g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 - SDHB_000007 - PubMed: Neumann, PubMed: Lodish - - Germline - - - 0 - DNA PCRsqd - - PGL - - 2 families 2 affected; 2 isolated cases - - Germany; United States - - 0 - - 1 Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large Parent #1 - pathogenic g.(17371384_17380442)_(17380665_?)del - Deletion Exon 1 (1 kb?) - SDHB_000007 0/5 controls PubMed: Amar, PubMed: McWhinney - - Germline ? - - 0 - DNA SEQ, PCRsqd - - PGL - - 1 family 3 affected - - Brazil - - 0 - - 1 Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? 0 deletion, large Unknown - pathogenic g.(17371384_17380442)_(17380665_?)del - exon 1 deletion (2.5kb) - SDHB_000007 - PubMed: Burnichon - - Germline - - - 0 - DNA PCRm, MLPA, PCRlr - - ? - - 1 family 1 affected - - France - - 0 - - 0 Jean-Pierre Bayley
+?/+? 1 c.(?_-151)_(72+1_73-1)del r.spl? p.? - deletion, large Unknown - pathogenic g.(17371384_17380442)_(17380665_?)del - c.-1-?_72+?del - SDHB_000007 - PubMed: Bennedbaek - - Germline ? - - 0 - DNA MLPA - - Healthy/Control - PubMed: Bennedbaek Denmark ? ? Denmark - - 0 - - 1 Jean-Pierre Bayley
+/+ _1_1i c.-151_(72+1_73-1){0} r.0? p.0? - deletion, large Unknown other pathogenic g.(17371384_17380442)_(17380665_?)del - exon 1 deletion, c.(?_-151)_(72+1_73-1)del - SDHB_000007 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
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