Variant (rsID / SNP)

rs312262901

rs312262901 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COMP. Location: chromosome 19, position 18,895,860. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

COMPLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:18895860
Cytoband: 19p13.11
HGVS: NM_000095.3(COMP):c.1760A>G (p.His587Arg)
Allele change: Missense_H587R

Associated conditions / phenotypes

Pseudoachondroplastic spondyloepiphyseal dysplasia 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.