Variant (rsID / SNP)
rs192358667
rs192358667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CC2D1A. Location: chromosome 19, position 14,023,342. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CC2D1AConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 19:14023342
- Cytoband
- 19p13.12
- HGVS
- NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val)
- Allele change
- Missense_A105V
Associated conditions / phenotypes
History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.