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Variant (rsID / SNP)

rs863225094

PPP2R1A

rs863225094 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP2R1A. Location: chromosome 19, position 52,716,329. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PPP2R1APathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
19:52716329
Cytoband
19q13.41
HGVS
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)
Allele change
Silent

Associated conditions / phenotypes

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome|9 conditions

Public references

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