Variant (rsID / SNP)

rs142918872

rs142918872 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to STAT5B. Location: chromosome 17, position 40,364,091. Clinical significance in the table: Uncertain significance.

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Reference-table entries

STAT5BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:40364091
Cytoband: 17q21.2
HGVS: NM_012448.4(STAT5B):c.1591G>A (p.Val531Met)
Allele change: Missense_V531M

Associated conditions / phenotypes

Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

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.