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.

14 entries on 1 page. Showing entries 1 - 14.
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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     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? _1_1i c.-10414_73-3868del p.0? deletion, large r.0? - Parent #1 - pathogenic g.17375251_17390928del g.17048756_17064433del Deletion Exon 1 (1 kb?) - SDHB_000131 0/5 controls PubMed: Amar 2007, PubMed: McWhinney 2004, PubMed: Cascon 2008 - - Germline - - - - - DNA SEQ, PCRsqd - - PGL ?;FamBRZ01PatII3;Pat6 PubMed: Amar 2007, PubMed: McWhinney 2004, PubMed: Cascon 2008 3-generation family, 3 affected (2F, M) M - Brazil - - - - - 3 Jean-Pierre Bayley
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Parent #1 - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 - SDHB_000131 16kb deletion exon 1 PubMed: Cascon 2008 - - Germline - - - - - DNA PCR, SEQ - - PGL Fam1Pat1 PubMed: Cascon 2008 2-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Parent #1 - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 - SDHB_000131 16kb deletion exon 1 PubMed: Cascon 2008 - - Germline - - - - - DNA PCR, SEQ - - PGL Fam1Pat2 PubMed: Cascon 2008 sister F - Spain - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Parent #1 - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 - SDHB_000131 16kb deletion exon 1 PubMed: Cascon 2008 - - Germline - - - - - DNA PCR, SEQ - - PGL Fam2 PubMed: Cascon 2008 - F - Spain - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat1 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat2 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat3 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat4 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat5 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat6 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat7 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.-10414_73-3868del p.0? - r.0? - Unknown - pathogenic (dominant) g.17375251_17390928del g.17048756_17064433del del ex1 seq[GRCh37/hg19] 1p36.13(17375250_17390928)x1 SDHB_000131 - PubMed: Fagundes 2023 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PGL Pat8 PubMed: Fagundes 2023 analysis 155 unrelated patients with pheochromocytomas/paragangliomas - - Brazil - - - - - 1 Johan den Dunnen
+?/+? _1_1i c.-10414_73-3868del p.(0?) deletion, large r.? - Parent #1 - pathogenic g.17375251_17390928del g.17048756_17064433del deletion of exon 1 (16kb) - SDHB_000131 15680 bp del incl. exon 1 PubMed: Solis 2009, PubMed: Cascon 2006, PubMed: Cascon 2008, PubMed: Cascon 2009 - - Unknown - - - - - DNA PCRm, RT-PCRq - - PGL ?;Pat22;Pat5;Fam1/2 PubMed: Solis 2009, PubMed: Cascon 2006, PubMed: Cascon 2008, PubMed: Cascon 2009 paternal grandmother - renal cell carcinoma, Fam – retroperitoneal PGL, metatases; 3 families 44 affected; 3 isolated cases M - Portugal - - - - - 3 Jean-Pierre Bayley
+?/+? _1_1i c.-10414_73-3868del p.(0?) deletion, large r.? - Parent #1 - pathogenic g.17375251_17390928del g.17048756_17064433del deletion of SDHB exon 1 (16kb) - SDHB_000131 15680 bp del, incl. exon 1 PubMed: Cascon 2006, PubMed: Cascon 2008 - - Germline - - - - - DNA PCRm, RT-PCRq - - PGL Pat31;Pat6 PubMed: Cascon 2006, PubMed: Cascon 2008 father - PGL Zuckerkandl, two brothers with increased dopamine, all mutation positive; 1 family 4 affected F - Spain - - - - - 1 Jean-Pierre Bayley
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