NM_004048.4(B2M):c.7C>T (p.Arg3Cys) AND Hypoproteinemia, hypercatabolic
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001309565.6
Allele description [Variation Report for NM_004048.4(B2M):c.7C>T (p.Arg3Cys)]
NM_004048.4(B2M):c.7C>T (p.Arg3Cys)
Condition(s)
- Name:
- Hypoproteinemia, hypercatabolic (IMD43)
- Synonyms:
- IMMUNODEFICIENCY 43; BETA-2-MICROGLOBULIN DEFICIENCY; B2M DEFICIENCY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009434; MedGen: C1855796; OMIM: 241600
Assertion and evidence details
Last Updated: Sep 29, 2024