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Variant (rsID / SNP)

rs61734270

PTGIS

rs61734270 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PTGIS. Location: chromosome 20, position 48,140,626. Clinical significance in the table: Likely pathogenic.

Reference-table entries

PTGISLikely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:48140626
Cytoband
20q13.13
HGVS
NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln)
Allele change
Missense_R275Q

Associated conditions / phenotypes

Childhood-Onset Schizophrenia

Public references

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