rs2544162249

This variant is located in the MFAP4 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About MFAP4

This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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