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     
?/+ 2 c.94_95del p.(Ala33Ilefs*35) - - - - r.(?) Parent #1 - VUS g.111958622_111958623del g.112087898_112087899del 2 bp frameshift 6799-6800, (F933>X67). - SDHD_000017 0/40 controls PubMed: Astuti, PubMed: Marvin, PubMed: Ricketts - - Germline - - - - - DNA SEQ, SSCA - - PGL - - OMIM602690:0017; 4 families; 2 isolated cases - - United Kingdom (Great Britain); United States - - - - - 2 Jean-Pierre Bayley
+/. - c.94_95del p.(Ala33Ilefs*35) frameshift - - - r.(?) Unknown - pathogenic (dominant) g.111958622_111958623del g.112087898_112087899del - - SDHD_000017 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
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