rs12572

This variant is located in the VMA12 gene.

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

not provided; TMEM199-related disorder; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney; Acute myeloid leukemia; Cervical cancer; Uterine corpus endometrial carcinoma; Gastric cancer; Cholangiocarcinoma; Hepatocellular carcinoma

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About VMA12

The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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