rs117542241

This variant is located in the CLTCL1 gene.

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ClinVar annotation

Benign★☆☆☆

3 submitters2 publications

CLTCL1-related disorder; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary; Colorectal cancer; Cervical cancer; Colon adenocarcinoma; Sarcoma; Gastric cancer; Melanoma; Hepatocellular carcinoma; Acute myeloid leukemia; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; not specified

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About CLTCL1

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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