U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

rs79931499 has not been reported to ClinVar. Refer to dbSNP record rs79931499 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs79931499

  • Clinical significance: not reported in ClinVar
  • Reference allele: C
  • Variation alleles: A, G, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000012.12: 102,840,476
  • GRCh37.p13: NC_000012.11: 103,234,254
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAH
(R413H)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic/Likely pathogenic
PAH
(R413P)
Single nucleotide variant
(missense variant)
Phenylketonuria
GPathogenic