Variant (rsID / SNP)
rs797044754
rs797044754 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP13. Location: chromosome 11, position 102,822,767. Clinical significance in the table: Pathogenic.
Reference-table entries
MMP13Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 11:102822767
- Cytoband
- 11q22.2
- HGVS
- NM_002427.4(MMP13):c.772dup (p.Asp258fs)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.