KIAA1586
Homo sapiens
Gene Name: KIAA1586
Aliases: FLJ30162
Chromosome No: 6
Chromosome Band: 6p12.1
Genetic Category: Rare Single Gene variant-Multigenic CNV
Aliases: FLJ30162
Chromosome No: 6
Chromosome Band: 6p12.1
Genetic Category: Rare Single Gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 6
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 2
Evidence score: 2
ASD Reports: 6
Recent Reports: 0
Annotated variants: 20
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Rare variants in the KIAA1586 gene have been identified with autism (Bucan et al., 2009; ORoak et al., 2012).
Molecular Function
Unknown
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN142R015
frameshift_variant
c.878del
p.Glu293GlyfsTer11
Familial
Maternal
Multiplex
GEN142R016
frameshift_variant
c.1448dup
p.Tyr483Ter
Familial
Paternal
Multiplex
GEN142R018
frameshift_variant
c.391_392insCC
p.Leu131ProfsTer25
Familial
Paternal
Multiplex
GEN142R019
frameshift_variant
c.619del
p.Ile207LeufsTer17
Familial
Maternal
Multiplex
GEN142R020
frameshift_variant
c.1705del
p.Ile569LeufsTer13
Familial
Paternal
Multiplex
Common
No Common Variants Available
