rs113150921

This variant is located in the RECQL5 gene.

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ClinVar annotation

Benign
2 submitters

RECQL5-related disorder; Clear cell carcinoma of kidney; Gastric cancer; Cholangiocarcinoma; Hepatocellular carcinoma; Uterine corpus endometrial carcinoma; Lung cancer; Familial cancer of breast; Malignant lymphoma, large B-cell, diffuse; Ovarian serous cystadenocarcinoma

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About RECQL5

The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

View all RECQL5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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