Full data view for gene SDHC

Leiden University Medical Center SDHC gene variant database
Information The variants shown are described using the NM_003001.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
+/+? 4 c.224G>A p.(Gly75Asp) missense 0.968 93.77 0.00 r.(?) Unknown - pathogenic g.161310428G>A g.161340638G>A - - SDHC_000029 - PubMed: Neumann - - Germline - - - - - DNA SEQ - - PGL - - 2 families 2 affected - - Germany - - - - - 1 Jean-Pierre Bayley
+?/+? 4 c.224G>A p.(Gly75Asp) - - - - r.(?) Unknown - likely pathogenic g.161310428G>A g.161340638G>A - - SDHC_000029 SDHB IHC Neg PubMed: Boikos - - Unknown ? - - - - DNA SEQ - - Carney complex - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas M ? United States - - - - - 1 Jean-Pierre Bayley
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.