Variant (rsID / SNP)

rs17007544

rs17007544 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,295,866. Clinical significance in the table: Benign.

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Reference-table entries

PCAREBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:29295866
Cytoband: 2p23.2
HGVS: NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg)
Allele change: Missense_K421R

Associated conditions / phenotypes

Retinitis pigmentosa

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.