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rs80338785 has not been reported to ClinVar. Refer to dbSNP record rs80338785 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs80338785

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation alleles: A, C, T
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000017.11: 63,959,269
  • GRCh37.p13: NC_000017.10: 62,036,629
Genome Data Viewer

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN4A
(R672C)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 2
+2 more
GPathogenic
SCN4A
(R672S)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
GPathogenic
SCN4A
(R672G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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