rs2308953

This variant is located in the RAD1 gene.

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ClinVar annotation

Benign
2 submitters

RAD1-related disorder; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Ovarian serous cystadenocarcinoma; Malignant tumor of esophagus; Cervical cancer; Familial cancer of breast; Sarcoma; Acute myeloid leukemia

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About RAD1

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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