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rs137853284 has not been reported to ClinVar. Refer to dbSNP record rs137853284 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs137853284

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation alleles: A, C
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000013.11: 51,958,333
  • GRCh37.p13: NC_000013.10: 52,532,469
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(R778W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
ATP7B
(R778G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic