Variant (rsID / SNP)

rs145987132

rs145987132 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAA2. Location: chromosome 1, position 57,158,052. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PRKAA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:57158052
Cytoband: 1p32.2
HGVS: NM_006252.4(PRKAA2):c.352C>T (p.Arg118Trp)
Allele change: Missense_R118W

Associated conditions / phenotypes

High myopia

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.