rs1336309599
This variant is located in the MFSD2A gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout MFSD2A
The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
View all MFSD2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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