rs137853148

This is a variant in the PDGFRL gene that changes a histidine to an tyrosine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Carcinoma of colon (CRC)

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About PDGFRL

This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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