ExperimentalAssay
ClinVarID:2216
ClinVarID:2217
ClinVarID:2218
ClinVarID:223186
CAID:CA351756226
CAID:CA351753891
ClinVarID:223225
ClinVarID:419447
CAID:CA357012
CAID:CA2499307020
ClinVarID:411977
ClinVarID:2229
ClinVarID:182983
ClinVarID:428804
ClinVarID:182975
ClinVarID:567944
ClinVarID:223200
ClinVarID:36905
inferred_gene_hgnc:12687
inferred_gene_source:CAID
VHL Hypothesis Annotation
2 Matching Annotations
- Last 7 days
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onlinelibrary.wiley.com onlinelibrary.wiley.com
Tags
- ClinVarID:2218
- ClinVarID:182975
- inferred_gene_source:CAID
- CAID:CA357012
- CAID:CA351753891
- ClinVarID:2216
- ClinVarID:182983
- inferred_gene_hgnc:12687
- CAID:CA2499307020
- ExperimentalAssay
- ClinVarID:2217
- ClinVarID:428804
- ClinVarID:419447
- ClinVarID:223200
- CAID:CA351756226
- ClinVarID:223186
- ClinVarID:223225
- ClinVarID:411977
- VHL Hypothesis Annotation
- ClinVarID:567944
- ClinVarID:36905
- ClinVarID:2229
Annotators
URL
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onlinelibrary-wiley-com.myaccess.library.utoronto.ca onlinelibrary-wiley-com.myaccess.library.utoronto.ca
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Renal cell carcinomas from 31 patients (22 of which were confirmed clear cell renal cell carcinoma) were obtained from the CentreLeon Berard (Lyon, France) and were analyzed for mutations in the VHL gene. SSCP analysis of exon 2 and 3 and of a 450-nucleotide region in the last one third 3'-region of exon 1 of the VHL gene was used to detect mutations. Tumor 3087 (non metastatic) was taken via nephrectomy from a 68 year old male with clear cell renal cell carcinoma. Two mutations were detected in this tumor sample. Comparison with peripheral blood leukocytes showed that the P61P (c.183C>G) mutation in exon 1 was present in non-tumor tissue as well, demonstrating that this is a germline mutation. This silent mutation was reported as a rare polymorphism in Sekido et al, 1994 (PMID: 8183553). A somatic mutation L181P (c.551T>C) in exon 3 was also detected in tumor 3087.
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