rs61751194

This variant is located in the DROSHA gene.

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ClinVar annotation

Likely Benign
2 submitters

DROSHA-related disorder; Cervical cancer; Familial cancer of breast; Uterine corpus endometrial carcinoma; Acute myeloid leukemia; Lung cancer; Clear cell carcinoma of kidney; Familial pancreatic carcinoma; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Melanoma; Malignant tumor of esophagus

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About DROSHA

This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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