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rs199474790 has not been reported to ClinVar. Refer to dbSNP record rs199474790 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs199474790

  • Clinical significance: not reported in ClinVar
  • Reference allele: A
  • Variation alleles: C, G, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000017.11: 31,258,487
  • GRCh37.p13: NC_000017.10: 29,585,505
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(K1419E +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(K1419Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic