NM_000061.3(BTK):c.1578C>A (p.Asn526Lys) AND X-linked agammaglobulinemia with growth hormone deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 30, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700307.6
Allele description [Variation Report for NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)]
NM_000061.3(BTK):c.1578C>A (p.Asn526Lys)
Condition(s)
- Name:
- X-linked agammaglobulinemia with growth hormone deficiency (IGHD3)
- Synonyms:
- IGHD III; Isolated growth hormone deficiency type 3; Growth hormone deficiency with hypogammaglobulinemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010615; MedGen: C0472813; Orphanet: 631; OMIM: 307200
Assertion and evidence details
Last Updated: Feb 20, 2024