Full data view for gene SDHD

Leiden University Medical Center SDHD gene variant database
Information The variants shown are described using the NM_003002.2 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.33C>A p.(Cys11*) nonsense - - - r.(?) Parent #1 - pathogenic g.111957664C>A g.112086940C>A - - SDHD_000027 - PubMed: Neumann, PubMed: Neumann, PubMed: Peczkowska - - Germline - - - - - DNA SEQ, SSCA - - PGL - - 18 families 33 affected; 9 isolated cases - - Germany;Poland - - - - - 3 Jean-Pierre Bayley
+/. - c.33C>A p.(Cys11*) - - - - r.(?) Unknown ACMG pathogenic g.111957664C>A g.112086940C>A - - SDHD_000027 ACMG grading: PS3,PM1,PM2,PP5; Guyant-Marechal et al. 2006. Neurology 67: 644; Hübbers et al. 2007. Brain 130: 381; Krause et al. 2007. Clin Neuropathol 26: 232; Niwa et al. 2012. J Biol Chem 287: 8561; Erzurumlu et al. 2013. Int J Biochem Cell Biol 45: 773 - - rs104894309 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - Germany - - - - - 1 Andreas Laner
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