Variant (rsID / SNP)
rs142752401
rs142752401 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to DCN. Location: chromosome 12, position 91,552,187. Clinical significance in the table: Benign.
Reference-table entries
DCNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:91552187
- Cytoband
- 12q21.33
- HGVS
- NM_001920.5(DCN):c.424A>G (p.Lys142Glu)
- Allele change
- Silent
Associated conditions / phenotypes
Congenital stromal corneal dystrophy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.