Variant (rsID / SNP)

rs281864783

rs281864783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PRKAR1A. Location: chromosome 17, position 66,519,005. Clinical significance in the table: Pathogenic.

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Reference-table entries

PRKAR1APathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:66519005
Cytoband: 17q24.2
HGVS: NM_002734.5(PRKAR1A):c.286C>T (p.Arg96Ter)
Allele change: Nonsense_R96X

Associated conditions / phenotypes

Carney complex, type 1

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.