rs1419228
This is a intron variant variant in the DCDC2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association of reading disabilities with regions marked by acetylated H3 histones in KIAA0319AssociationN=291Jillian M. Couto et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This family-based association study identifies SNP markers in KIAA0319 and VMP/NRSN1 genes associated with reading disability, with the strongest finding for rs6935076 in KIAA0319 (χ² = 6.025, P = 0.014). Using chromatin immunoprecipitation (ChIP-chip) to map regulatory elements, the authors identified acetylated histone H3 marks at a 2.7 kb region spanning the 5' untranslated region and intron 1 of KIAA0319, which overlaps with multiple previously and newly identified associated markers. Integration of genetic and epigenomic data narrows the candidate region for reading disability risk variants on chromosome 6p.
About DCDC2
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
View all DCDC2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…