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.

7 entries on 1 page. Showing entries 1 - 7.
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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.149A>G p.(His50Arg) missense 0.681 28.82 0.00 r.(?) Parent #1 - likely benign g.111958677A>G g.112087953A>G - - SDHD_000019 Relatively common variant (0.009% in European population). Found 1811 times in gnomAD. Extremely low Grantham score. - - - Germline - - - - - DNA SEQ - - PGL - - - - - Germany - - - - - 1 Andreas Laner
?/- 2 c.149A>G p.(His50Arg) - - - - r.(?) Parent #1 - likely benign g.111958677A>G g.112087953A>G CAC -> CGC, A160G (H50R), g.6854 A>G - SDHD_000019 - PubMed: Cascón, PubMed: Cascon, PubMed: Kytola, PubMed: Perren, PubMed: Gimenez-Roqueplo, PubMed: Riemann, PubMed: Castellano, PubMed: Lima - - Germline - 1.0 - 3.0% - - - DNA DHPLC, SEQ, SSCA - - Healthy/Control - - OMIM602690:0019 - - - - - - - - 7 Jean-Pierre Bayley
-/. - c.149A>G p.(His50Arg) - - - - r.(?) Unknown - benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G p.(His50Arg) - - - - r.(?) Unknown - likely benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.149A>G p.(His50Arg) - - - - r.(?) Unknown - likely benign g.111958677A>G g.112087953A>G SDHD(NM_001276506.1):c.149A>G (p.H50R), SDHD(NM_003002.4):c.149A>G (p.H50R) - SDHD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149A>G p.(His50Arg) - - - - r.(?) Parent #1 - likely benign g.111958677A>G g.112087953A>G - - SDHD_000019 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11214077 Germline - 7/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.149A>G p.(His50Arg) - - - - r.(?) Unknown - likely benign g.111958677A>G - - - SDHD_000019 - - - rs11214077 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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