rs117020479

This variant is located in the SAMD12 gene.

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ClinVar annotation

Likely Benign★☆☆☆
2 submitters

not provided; Lymphoma; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Colon adenocarcinoma; Malignant tumor of esophagus; Familial cancer of breast; Familial pancreatic carcinoma; Gastric cancer; Hepatocellular carcinoma; Lung cancer; Ovarian cancer

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About SAMD12

Predicted to be involved in cell surface receptor protein tyrosine kinase signaling pathway. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in familial adult myoclonic epilepsy 1. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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