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Variant (rsID / SNP)

rs201355503

PCARE

rs201355503 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,294,070. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCAREConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:29294070
Cytoband
2p23.2
HGVS
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)
Allele change
Missense_Q1020K

Associated conditions / phenotypes

Retinitis pigmentosa

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.