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rs121913016 has not been reported to ClinVar. Refer to dbSNP record rs121913016 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs121913016

  • Clinical significance: not reported in ClinVar
  • Reference allele: G
  • Variation allele: C
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000019.10: 45,357,367
  • GRCh37.p13: NC_000019.9: 45,860,625
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERCC2
(L461V +1 more)
Single nucleotide variant
(missense variant)
Xeroderma pigmentosum
GPathogenic
ERCC2
(L461V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity