Variant (rsID / SNP)

rs104893758

rs104893758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to POU1F1. Location: chromosome 3, position 87,311,248. 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: 3:87311248
Cytoband: 3p11.2
HGVS: NM_000306.4(POU1F1):c.577T>C (p.Trp193Arg)
Allele change: Missense_W193R

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.