Variant (rsID / SNP)

rs786205227

rs786205227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PPP2R1A. Location: chromosome 19, position 52,715,979. 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: 19:52715979
Cytoband: 19q13.41
HGVS: NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
Allele change: Silent

Associated conditions / phenotypes

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

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.