Variant (rsID / SNP)
rs192753009
rs192753009 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANKH. Location: chromosome 5, position 14,710,726. Clinical significance in the table: Benign.
Reference-table entries
ANKHBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:14710726
- Cytoband
- 5p15.2
- HGVS
- NM_054027.6(ANKH):c.*580C>T
- Allele change
- Silent
Associated conditions / phenotypes
Craniometaphyseal dysplasia, autosomal dominant|Chondrocalcinosis 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.