rs9467075
This is a synonymous variant in the DCDC2 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Autosomal recessive nonsyndromic hearing loss 66 (DFNB66); Isolated neonatal sclerosing cholangitis (NSC); Nephronophthisis 19 (NPHP19); not specified
View on ClinVar →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.
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