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rs121908991 has not been reported to ClinVar. Refer to dbSNP record rs121908991 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs121908991

  • Clinical significance: not reported in ClinVar
  • Reference allele: C
  • Variation alleles: A, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000007.14: 151,560,609
  • GRCh37.p13: NC_000007.13: 151,257,695
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKAG2
(R531L +4 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PRKAG2
(R531Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic