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Variant (rsID / SNP)

rs190791051

PCARE

rs190791051 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,296,598. 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
2:29296598
Cytoband
2p23.2
HGVS
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu)
Allele change
Missense_P177L

Public references

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