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Variant (rsID / SNP)

rs149601594

PCARE

rs149601594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,295,065. 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
2:29295065
Cytoband
2p23.2
HGVS
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)
Allele change
Missense_C688Y

Associated conditions / phenotypes

Retinitis pigmentosa|Retinitis pigmentosa 54

Public references

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