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_4_ c.(?_-61)_(*824_?)del p.? deletion, large - - - r.? Parent #1 - pathogenic g.(?_111957571)_(111966518_?)del - approximately 96-kb deletion spanning SDHD - SDHD_000025 0/1 controls PubMed: McWhinney - - Germline - - - - - DNA SEQ, PCRsqd - - PGL - - 1 family 6 affected - - United States - - - - - 1 Jean-Pierre Bayley
?/+ _1_4_ c.(?_-61)_(*824_?)del p.? - - - - r.? Unknown - pathogenic g.(?_111957571)_(111966518_?)del - Deletion Exons 1-4 - SDHD_000025 - PubMed: Neumann, PubMed: Piccini - - Germline - - - - - DNA PCRsqd - - PGL - - 2 families 2 affected; 1 isolated case - - Germany - - - - - 2 Jean-Pierre Bayley
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