Variant (rsID / SNP)

rs140059558

rs140059558 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMP13. Location: chromosome 11, position 102,824,903. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MMP13Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:102824903
Cytoband: 11q22.2
HGVS: NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)
Allele change: Missense_W207G

Associated conditions / phenotypes

Metaphyseal chondrodysplasia, Spahr type

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.