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rs121909574 has not been reported to ClinVar. Refer to dbSNP record rs121909574 for details on variation at this location. Please consider submitting your interpretation of this variant to ClinVar

Genetic variation

rs121909574

  • Clinical significance: not reported in ClinVar
  • Reference allele: T
  • Variation alleles: A, C, G
  • Variation type: single nucleotide variation
  • Organism: Homo sapiens
  • GRCh38.p14: NC_000006.12: 10,404,508
  • GRCh37.p13: NC_000006.11: 10,404,741
Genome Data Viewer

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740638, TFAP2A
+1 more
(R249W +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GPathogenic
TFAP2A-AS2, LOC121740638
+1 more
(R251G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic