rs139911468

This variant is located in the OGA gene.

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ClinVar annotation

Likely Benign★★★☆
3 submitters2 publications

not provided; Uterine corpus endometrial carcinoma; Clear cell carcinoma of kidney; Familial cancer of breast; Uveal melanoma; Colorectal cancer; Malignant tumor of esophagus; Cervical cancer; Gastric cancer; Lymphoma; Thymoma; Melanoma; Colon adenocarcinoma; Sarcoma; Acute myeloid leukemia; Lung cancer

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About OGA

The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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