Variant (rsID / SNP)
rs12274923
rs12274923 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CDON. Location: chromosome 11, position 125,871,715. Clinical significance in the table: Benign.
Reference-table entries
CDONBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:125871715
- Cytoband
- 11q24.2
- HGVS
- NM_001378964.1(CDON):c.2057C>T (p.Ala686Val)
- Allele change
- Missense_A686V
Associated conditions / phenotypes
Holoprosencephaly 11
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.