Variant (rsID / SNP)
rs41529445
rs41529445 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP9. Location: chromosome 20, position 44,639,905. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MMP9Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:44639905
- Cytoband
- 20q13.12
- HGVS
- NM_004994.3(MMP9):c.773C>T (p.Thr258Ile)
- Allele change
- Missense_T258I
Associated conditions / phenotypes
Metaphyseal anadysplasia 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.