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.

3 entries on 1 page. Showing entries 1 - 3.
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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.112C>T p.(Arg38*) - - - - r.(?) Parent #1 - pathogenic g.111958640C>T g.112087916C>T CGA ->TGA Arg38->Stop, C.112 C>T (R38X), C112T Codon 38, Arg to Stop - SDHD_000002 - PubMed: Baysal, PubMed: Baysal, PubMed: Neumann, PubMed: Neumann, PubMed: Gimm, PubMed: Fish, PubMed: Lodish - - Germline - - - - - DNA SEQ, SSCA - - PGL - - OMIM602690:0002; 5 families 26 affected; 5 isolated cases - - United States; Germany;Poland - - - - - 7 Jean-Pierre Bayley
+/+ 2 c.112C>T p.(Arg38*) - - - - r.(?) Unknown - pathogenic g.111958640C>T g.112087916C>T R38X - SDHD_000002 - - - - Unknown - - - - - DNA SEQ - - PGL - - - - - China - - - - - - Yang Zha
+/. - c.112C>T p.(Arg38*) nonsense - - - r.(?) Unknown - pathogenic g.111958640C>T g.112087916C>T - - SDHD_000002 - PubMed: Kim 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? - PubMed: Kim 2021 - - - Korea - - - - - 1 Johan den Dunnen
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