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Gene entry

IGSF1

immunoglobulin superfamily member 1

Chromosome
X
Cytoband
Xq26.1
Variants (rsID)
19

IGSF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.1). Its official name is “immunoglobulin superfamily member 1”. The reference table lists 19 variants (rsID) for this gene.

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Clinically classified variants

4 reference-table entries with clinical significance.

  • rs4830219Benignsingle nucleotide variantX-linked central congenital hypothyroidism with late-onset testicular enlargement
  • rs6529473Benignsingle nucleotide variantX-linked central congenital hypothyroidism with late-onset testicular enlargement
  • rs398122920PathogenicDeletionX-linked central congenital hypothyroidism with late-onset testicular enlargement
  • rs398122921PathogenicDuplicationX-linked central congenital hypothyroidism with late-onset testicular enlargement

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.