NM_012448.4(STAT5B):c.750C>T (p.Asp250=) AND Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001471684.7
Allele description [Variation Report for NM_012448.4(STAT5B):c.750C>T (p.Asp250=)]
NM_012448.4(STAT5B):c.750C>T (p.Asp250=)
Condition(s)
- Name:
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Synonyms:
- GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT; LARON SYNDROME DUE TO POSTRECEPTOR DEFECT; Growth hormone insensitivity with immunodeficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100211; MedGen: C5435698; Orphanet: 220465; OMIM: 245590
Assertion and evidence details
Last Updated: Jan 13, 2025