NM_000061.3(BTK):c.1908+2dup AND X-linked agammaglobulinemia with growth hormone deficiency
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002967463.3
Allele description [Variation Report for NM_000061.3(BTK):c.1908+2dup]
NM_000061.3(BTK):c.1908+2dup
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
-
PREDICTED: kin of IRRE-like protein 3 [Bison bison bison]
PREDICTED: kin of IRRE-like protein 3 [Bison bison bison]gi|742226717|ref|XP_010827792.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024