Variant (rsID / SNP)

rs141559332

rs141559332 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,294,780. Clinical significance in the table: Likely benign.

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Reference-table entries

PCARELikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:29294780
Cytoband: 2p23.2
HGVS: NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr)
Allele change: Missense_I783T

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.