present in Gene: STAT5B
present in Chromosome: 17
Position on Chromosome: 42210189
Alleles of this Variant: C/G
rs121908501 in
STAT5B gene and
Laron syndrome type 2
PMID 22419735 2012 A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
PMID 13679528 2003 Growth hormone insensitivity associated with a STAT5b mutation.
PMID 15827093 2005 Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.