rs1057517689

This is a variant in the MFSD2A gene that changes a serine to an leucine.

▶

ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Microcephaly 15, primary, autosomal recessive (NEDMISBA)

View on ClinVar →

About 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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…