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rs119450941 has not been reported to ClinVar. Refer to dbSNP record rs119450941 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs119450941

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation allele: A
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000022.11: 40,364,964
  • GRCh37.p13: NC_000022.10: 40,760,968
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADSL
(R426H +3 more)
Single nucleotide variant
(missense variant +2 more)
Adenylosuccinate lyase deficiency
GLikely pathogenic
ADSL
(R426H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GPathogenic