NUSAP1 Chromosome 15

Nucleolar and spindle associated protein 1

1 variant 1 Health Risk

Upload your DNA to see your personal genotypes for variants in NUSAP1.

What This Gene Does

NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]

Associated Conditions (3)

Microcephaly

seizures

and developmental delay

Key Variants

RS2140875089

Likely pathogenic

Microcephaly, seizures, and developmental delay

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS2140875089	Health Risk	Likely pathogenic	Microcephaly, seizures, and developmental delay