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.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Predicted     

RNA change     

Predict-BioInf     

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     
?/+? 5i c.405+1G>A p.(=) splicing affected? r.spl? - Unknown - likely pathogenic g.161326631G>A g.161356841G>A IVS5 - SDHC_000014 - PubMed: Pasini - - Germline - - - - - DNA SEQ - - cancer, PGL - - 1 family 1 affected - - - - - - - - 1 Jean-Pierre Bayley
+?/+? - c.405+1G>A p.? splicing affected? r.spl? - Unknown - likely pathogenic g.161326631G>A g.161356841G>A - - SDHC_000014 SDHB IHC Neg, SDHA IHC Pos PubMed: Boikos - - Unknown ? - - - - DNA SEQ - - Carney complex - PubMed: Boikos Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas F ? United States - - - - - 1 Jean-Pierre Bayley
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