Transcript error for CIC

[SKINNER, Hollie (KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST)]

Morning cBioPortal team,

 

I am writing to make you aware of a transcript discrepancy for CIC on the portal.

 

This can be easily seen using the variant R201W. On the portal there are multiple entries for R201W; however, when following the NM transcript listed on the website, this variant corresponds to R1110W. The R201W nomenclature instead aligns with ENST00000575354.6 (it dos have this  shown but the two transcript do not correspond to the same variant.

 

Could the RefSeq transcript be reviewed and updated so that the variant nomenclature aligns correctly and avoids potential discrepancies?

 

Many thanks,

Hollie

 

 

 

 

Hollie Skinner

Pre-registration Clinical Scientist

Molecular Neuropathology

Dept of Clinical Neuropathology | King’s College Hospital | Denmark Hill | London | SE5 9RS

Tel: 020 3299 2375

hollie....@synnovis.co.uk

www.synnovis.co.uk

 

 

 

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[Guizela Huelsz Prince]

Hi Hollie,

Thanks for reporting the discrepancy. I have reported the issue to a member of our team who will look into it.

Best,

Guizela

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[Xiang Li]

Hi Hollie,

Thanks for pointing this out. The mutation data is annotated using Ensembl transcripts. We are working on the RefSeq fix and will keep you posted on our progress.

Best,

Xiang

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