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rs137854446 has not been reported to ClinVar. Refer to dbSNP record rs137854446 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs137854446

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation alleles: C, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000019.10: 855,977
  • GRCh37.p13: NC_000019.9: 855,977
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
(L206F)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
GLikely pathogenic
ELANE
(L206F)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
GPathogenic