Variant (rsID / SNP)

rs2273779

rs2273779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRG4. Location: chromosome 1, position 186,273,994. Clinical significance in the table: Benign.

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Reference-table entries

PRG4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:186273994
Cytoband: 1q31.1
HGVS: NM_005807.6(PRG4):c.538C>T (p.Arg180Trp)
Allele change: Missense_R180W

Associated conditions / phenotypes

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

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.