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Gene entry

WDR19

WD repeat domain 19

Chromosome
4
Cytoband
4p14
Variants (rsID)
25

WDR19 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4p14). Its official name is “WD repeat domain 19”. The reference table lists 25 variants (rsID) for this gene.

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Clinically classified variants

7 reference-table entries with clinical significance.

  • rs138529452Benignsingle nucleotide variantSenior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Asphyxiating thoracic dystrophy 5|Cranioectodermal dysplasia 4|Senior-Loken syndrome 8|Nephronophthisis 13
  • rs16995209Benignsingle nucleotide variantCranioectodermal dysplasia 4|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Nephronophthisis 13|Connective tissue disorder|Senior-Loken syndrome 8
  • rs75964850Benignsingle nucleotide variantCranioectodermal dysplasia 4|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Nephronophthisis 13|Senior-Loken syndrome 8|Connective tissue disorder
  • rs199765304Conflicting interpretationssingle nucleotide variantAsphyxiating thoracic dystrophy 5|Cranioectodermal dysplasia 4|Senior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5
  • rs199904529Conflicting interpretationssingle nucleotide variantSenior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5
  • rs200133722Conflicting interpretationssingle nucleotide variantCranioectodermal dysplasia 4|Asphyxiating thoracic dystrophy 5|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Connective tissue disorder
  • rs79436363Conflicting interpretationssingle nucleotide variantSenior-Loken syndrome 8|Asphyxiating thoracic dystrophy 5|Senior-Loken syndrome 8|Cranioectodermal dysplasia|Nephronophthisis 13|Senior-Loken syndrome 8|Leber congenital amaurosis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.