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Gene entry

TRPS1

transcriptional repressor GATA binding 1

Chromosome
8
Cytoband
8q23.3
Variants (rsID)
38

TRPS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q23.3). Its official name is “transcriptional repressor GATA binding 1”. The reference table lists 38 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs146506752Benignsingle nucleotide variantTrichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III
  • rs147432147Benignsingle nucleotide variantTrichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
  • rs202001185Benignsingle nucleotide variantTrichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
  • rs2293889Benignsingle nucleotide variantTrichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
  • rs2721939Benignsingle nucleotide variant
  • rs148023627Conflicting interpretationssingle nucleotide variantTrichorhinophalangeal syndrome, type III|Trichorhinophalangeal dysplasia type I
  • rs190186284Likely benignsingle nucleotide variant
  • rs121908431Pathogenicsingle nucleotide variantTrichorhinophalangeal dysplasia type I|Trichorhinophalangeal dysplasia type I|Trichorhinophalangeal syndrome, type III
  • rs864621974Pathogenicsingle nucleotide variantTrichorhinophalangeal dysplasia type I

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.