Variant (rsID / SNP)

rs554675432

rs554675432 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PROK2. Location: chromosome 3, position 71,830,677. Clinical significance in the table: Pathogenic.

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Reference-table entries

PROK2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:71830677
Cytoband: 3p13
HGVS: NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)

Associated conditions / phenotypes

Hypogonadotropic hypogonadism 4 with or without anosmia

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.