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.

9 entries on 1 page. Showing entries 1 - 9.
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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.34G>A p.(Gly12Ser) missense 0.574 55.27 0.76 r.(?) Parent #1 - benign g.111957665G>A g.112086941G>A p.Gly12Ser - SDHD_000011 - PubMed: Taschner, PubMed: Gimm, PubMed: Masuoka, PubMed: Kytola, PubMed: Cascon, PubMed: Cascon, PubMed: Perren, PubMed: Gimenez-R, PubMed: De Preter, PubMed: Leube, {PMID:Bau - - Germline - 2.5 - 5.3% - - - DNA SSCA, SEQ, DHPLC - - Healthy/Control - - OMIM602690:0011 - - - - - - - - 12 Jean-Pierre Bayley
-/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Unknown - benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Unknown - benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Unknown - likely benign g.111957665G>A g.112086941G>A SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Parent #1 - likely benign g.111957665G>A g.112086941G>A - - SDHD_000011 9 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34677591 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Parent #1 - benign g.111957665G>A g.112086941G>A - - SDHD_000011 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat42 PubMed: Taylor 2014 - M - Hungary - - - - - 1 Johan den Dunnen
-?/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Both (homozygous) - likely benign g.111957665G>A g.112086941G>A - - SDHD_000011 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34677591 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Unknown - benign g.111957665G>A - SDHD(NM_001276503.1):c.34G>A (p.(Gly12Ser)), SDHD(NM_001276506.2):c.34G>A (p.G12S), SDHD(NM_003002.4):c.34G>A (p.G12S) - SDHD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A p.(Gly12Ser) - - - - r.(?) Unknown - likely benign g.111957665G>A - - - SDHD_000011 - - - rs34677591 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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