Variant (rsID / SNP)

rs104893764

rs104893764 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POU1F1. Location: chromosome 3, position 87,309,232. Clinical significance in the table: Pathogenic.

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Reference-table entries

POU1F1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:87309232
Cytoband: 3p11.2
HGVS: NM_000306.4(POU1F1):c.688G>A (p.Glu230Lys)
Allele change: Missense_E230K

Associated conditions / phenotypes

Pituitary hormone deficiency, combined, 1

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.