Variant (rsID / SNP)

rs398122921

rs398122921 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGSF1. Clinical significance in the table: Pathogenic.

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Reference-table entries

IGSF1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Cytoband: Xq26.1
HGVS: NM_001555.5(IGSF1):c.3581dup (p.Glu1195fs)

Associated conditions / phenotypes

X-linked central congenital hypothyroidism with late-onset testicular enlargement

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.