Variant (rsID / SNP)

rs387906822

rs387906822 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OSMR. Location: chromosome 5, position 38,925,342. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

OSMRLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:38925342
Cytoband: 5p13.1
HGVS: NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)
Allele change: Missense_P695L

Associated conditions / phenotypes

Amyloidosis, primary localized cutaneous, 1

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.