rs372764381

This variant is located in the CABLES1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CABLES1

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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