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.49C>T p.(Arg17*) nonsense - - - r.(?) Unknown - pathogenic g.111957680C>T g.112086956C>T R17X - SDHD_000085 - PubMed: Papaspyrou - - Germline - - - - - DNA SEQ - - PGL - - 1 family 2 affected - - Greece - - - - - 1 Jean-Pierre Bayley
+/+ 1 c.49C>T p.(Arg17*) - - - - r.(?) Unknown - pathogenic g.111957680C>T g.112086956C>T - - SDHD_000085 - PubMed: Neumann - - Germline - - - - - DNA SEQ - - PGL - - 1 isolated case - - - - - - - - 1 Jean-Pierre Bayley
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