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.

4 entries on 1 page. Showing entries 1 - 4.
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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.21C>T p.(=) silent - - - r.(=) Parent #1 - VUS g.17380494G>A g.17053999G>A p.Leu7Leu - SDHB_000009 - PubMed: Cascon - - Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - Spain - - - - - 1 Jean-Pierre Bayley
-/. - c.21C>T p.(Leu7=) - - - - r.(?) Unknown - benign g.17380494G>A g.17053999G>A SDHB(NM_003000.2):c.21C>T (p.L7=), SDHB(NM_003000.3):c.21C>T (p.L7=) - SDHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.21C>T p.(Leu7=) - - - - r.(?) Unknown - benign g.17380494G>A g.17053999G>A SDHB(NM_003000.2):c.21C>T (p.L7=), SDHB(NM_003000.3):c.21C>T (p.L7=) - SDHB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 1 c.21C>T p.(Leu7=) silent - - - r.(=) Unknown other likely benign g.17380494G>A - - - SDHB_000009 Variant classified by experts from the NGSnPPGL study group (ENS@T/PRESSOR) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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