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 c.-10413_73-3866del p.(0?) deletion, large - - - r.? Parent #1 - pathogenic g.17375249_17390927del g.17048754_17064432del deletion of exon 1 (16kb) - SDHB_000131 15680 bp del incl. exon 1 PubMed: Solis, PubMed: Cascon, PubMed: Cascon, PubMed: Cascon - - Unknown - - - - - DNA PCRm, RT-PCRq - - PGL - - paternal grandmother - renal cell carcinoma, Fam – retroperitoneal PGL, metatases; 3 families 44 affected; 3 isolated cases - - Spain - - - - - 3 Jean-Pierre Bayley
+?/+? 1 c.-10413_73-3866del p.(0?) deletion, large - - - r.? Parent #1 - pathogenic g.17375249_17390927del g.17048754_17064432del deletion of SDHB exon 1 (16kb) - SDHB_000131 15680 bp del, incl. exon 1 PubMed: Cascon - - Unknown - - - - - DNA PCRm, RT-PCRq - - PGL - - father - PGL Zuckerkandl, two brothers with increased dopamine, all mutation positive; 1 family 4 affected - - Spain - - - - - 1 Jean-Pierre Bayley
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