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Variant (rsID / SNP)

rs143057250

HESX1

rs143057250 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HESX1. Location: chromosome 3, position 57,232,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HESX1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:57232493
Cytoband
3p14.3
HGVS
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
Allele change
Missense_V129I

Associated conditions / phenotypes

Septo-optic dysplasia sequence|Pituitary hormone deficiency, combined, 1|Septo-optic dysplasia sequence|Growth hormone deficiency with pituitary anomalies|Amenorrhea

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.