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Variant (rsID / SNP)

rs143171571

STAT5B

rs143171571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT5B. Location: chromosome 17, position 40,370,280. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

STAT5BConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:40370280
Cytoband
17q21.2
HGVS
NM_012448.4(STAT5B):c.1058G>A (p.Arg353His)
Allele change
Missense_R353H

Associated conditions / phenotypes

Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Public references

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