rs148292145
This variant is located in the VMA12 gene.
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout 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]
View all VMA12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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