Variant (rsID / SNP)
rs137853146
rs137853146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADAMTS2. Location: chromosome 5, position 178,699,927. Clinical significance in the table: Pathogenic.
Reference-table entries
ADAMTS2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:178699927
- Cytoband
- 5q35.3
- HGVS
- NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
- Allele change
- Nonsense_Q225X
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.