Variant (rsID / SNP)
rs66565583
rs66565583 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS2. Location: chromosome 5, position 178,634,547. Clinical significance in the table: Benign.
Reference-table entries
ADAMTS2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:178634547
- Cytoband
- 5q35.3
- HGVS
- NM_014244.5(ADAMTS2):c.858C>T (p.His286=)
- Allele change
- Synonymous_H286H
Associated conditions / phenotypes
Ehlers-Danlos syndrome, dermatosparaxis type
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.