NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) AND X-linked agammaglobulinemia with growth hormone deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000799270.3
Allele description [Variation Report for NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)]
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
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