Variant (rsID / SNP)

rs104893742

rs104893742 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HESX1. Location: chromosome 3, position 57,232,433. Clinical significance in the table: Pathogenic.

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Reference-table entries

HESX1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:57232433
Cytoband: 3p14.3
HGVS: NM_003865.3(HESX1):c.445G>A (p.Glu149Lys)
Allele change: Missense_E149K

Associated conditions / phenotypes

Growth hormone deficiency with pituitary anomalies

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.