chromosomal inversion inv(3)(q25;q29) (paracentric)

- a chromosomal aberration involving ATP13A4 is found in 2 patients with specific language impairment (SLI) disorders paracentric inversion inv(3)(q25;q29) - inversion produces a disruption of the protein

Properties

GENERAL: chromosomal inversion FORM: inv(3)(q25;q29) LOCUS: human chromosome-3 Q25 human chromosome-3 Q29 PATHOLOGY: attention-deficit hyperactivity disorder SPLICED-GENES: cation-transporting ATPase 13A4

References

UniProt :accession Q4VNC1