Variant (rsID / SNP)

rs52826764

rs52826764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MATN3. Location: chromosome 2, position 20,205,541. 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: 2:20205541
Cytoband: 2p24.1
HGVS: NM_002381.5(MATN3):c.754G>A (p.Glu252Lys)
Allele change: Missense_E252K

Associated conditions / phenotypes

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.