Variant (rsID / SNP)

rs243849

rs243849 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP2. Location: chromosome 16, position 55,523,705. Clinical significance in the table: Benign.

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Reference-table entries

MMP2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:55523705
Cytoband: 16q12.2
HGVS: NM_004530.6(MMP2):c.1149T>C (p.Asp383=)
Allele change: Synonymous_D307D

Associated conditions / phenotypes

Multicentric osteolysis, nodulosis, and arthropathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.