Variant (rsID / SNP)

rs140776870

rs140776870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCARE. Location: chromosome 2, position 29,295,284. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PCAREBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:29295284
Cytoband: 2p23.2
HGVS: NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
Allele change: Missense_V615D

Associated conditions / phenotypes

Retinitis pigmentosa 54|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.