rs760064185

This variant is located in the AUTS2 gene.

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

not provided; Inborn genetic diseases

About AUTS2

This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]

View all AUTS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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