rs146925326

This variant is located in the ALG13 gene.

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ClinVar annotation

Benign★★★☆
7 submitters3 publications

not specified; not provided; Developmental and epileptic encephalopathy, 36; Inborn genetic diseases; Colorectal cancer; Gastric cancer; Melanoma; Hepatocellular carcinoma; Ovarian cancer; Lymphoma; Ovarian serous cystadenocarcinoma; Thymoma; Thyroid cancer, nonmedullary, 1; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Sarcoma; Acute myeloid leukemia; Malignant tumor of esophagus; Familial cancer of breast; Chronic lymphocytic leukemia/small lymphocytic lymphoma; Clear cell carcinoma of kidney; Uveal melanoma; Familial pancreatic carcinoma; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary; Lung cancer; Cervical cancer

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About ALG13

The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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