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rs797044955 has not been reported to ClinVar. Refer to dbSNP record rs797044955 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs797044955

  • Clinical significance: not reported in ClinVar
  • Reference allele: C
  • Variation alleles: G, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000003.12: 4,645,672
  • GRCh37.p13: NC_000003.11: 4,687,356
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ITPR1
(T267R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+1 more
GPathogenic/Likely pathogenic
ITPR1
(T267M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 29
+3 more
GPathogenic