Variant (rsID / SNP)

rs4830219

rs4830219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IGSF1. Clinical significance in the table: Benign.

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Reference-table entries

IGSF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq26.1
HGVS: NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=)
Allele change: Synonymous_Y843Y

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.