RP11-1407O15.2
Homo sapiens
Gene Name:
Aliases:
Chromosome No: 17
Chromosome Band:
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 17
Chromosome Band:
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 0
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Two non-synonymous postzygotic mosaic mutations (PZMs) in RP11-1407O15.2 were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 39/84,448 expected; hypergeometric P-value of 0.029).
Molecular Function
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD