Home > Gene Browser > KIAA0319

KIAA0319

Synonyms
AAVR, DYLX2, DYX2, NMIG
External resources
Summary
This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
15,474
Likely benign
2,591
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on KIAA0319 gene.

Phenotype class
Patients in 3billion (%)

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