Gene entry
CC2D1A
coiled-coil and C2 domain containing 1A
- Chromosome
- 19
- Cytoband
- 19p13.12
- Variants (rsID)
- 13
CC2D1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.12). Its official name is “coiled-coil and C2 domain containing 1A”. The reference table lists 13 variants (rsID) for this gene.
Clinically classified variants
11 reference-table entries with clinical significance.
- rs199683318Benignsingle nucleotide variantHistory of neurodevelopmental disorder
- rs2305777Benignsingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3
- rs61740117Benignsingle nucleotide variantHistory of neurodevelopmental disorder
- rs75601897Benignsingle nucleotide variantHistory of neurodevelopmental disorder
- rs191830054Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal recessive 3|History of neurodevelopmental disorder
- rs192358667Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder
- rs200354654Conflicting interpretationssingle nucleotide variant
- rs200557641Conflicting interpretationssingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3
- rs202057391Conflicting interpretationssingle nucleotide variantSmith-Magenis Syndrome-like|History of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3
- rs876657679Pathogenicsingle nucleotide variantIntellectual disability, autosomal recessive 3|Intellectual disability
- rs201420492Uncertain significancesingle nucleotide variantHistory of neurodevelopmental disorder|Intellectual disability, autosomal recessive 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.