rs141922962

This variant is located in the NDUFV3 gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

not specified; not provided; NDUFV3-related disorder; Clear cell carcinoma of kidney; Sarcoma; Ovarian serous cystadenocarcinoma; Nonpapillary renal cell carcinoma; Lung cancer; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse; Colon adenocarcinoma; Colorectal cancer; Cervical cancer; Familial cancer of breast; Thyroid cancer, nonmedullary, 1; Melanoma; Acute myeloid leukemia; Hepatocellular carcinoma; Uterine corpus endometrial carcinoma; Gastric cancer; Thymoma; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary

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About NDUFV3

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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