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rs387906631 has not been reported to ClinVar. Refer to dbSNP record rs387906631 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs387906631

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation alleles: A, C
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000003.12: 128,481,900
  • GRCh37.p13: NC_000003.11: 128,200,743
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATA2
(T340R +1 more)
Single nucleotide variant
(missense variant)
GATA2 deficiency with susceptibility to MDS/AML
+1 more
GLikely pathogenic
GATA2
(T354M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic