Variant (rsID / SNP)

rs148527546

rs148527546 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTPRQ. Location: chromosome 12, position 80,839,393. Clinical significance in the table: Benign.

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Reference-table entries

PTPRQBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:80839393
Cytoband: 12q21.31
HGVS: NM_001145026.2(PTPRQ):c.286G>A (p.Val96Ile)
Allele change: Missense_V96I

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.