Variant (rsID / SNP)

rs77245812

rs77245812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MATN3. Location: chromosome 2, position 20,202,930. Clinical significance in the table: Benign.

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Reference-table entries

MATN3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:20202930
Cytoband: 2p24.1
HGVS: NM_002381.5(MATN3):c.908C>T (p.Thr303Met)
Allele change: Silent

Associated conditions / phenotypes

Osteoarthritis susceptibility 2|Multiple epiphyseal dysplasia type 5|Connective tissue disorder

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.