NM_004048.4(B2M):c.245T>C (p.Phe82Ser) AND Hypoproteinemia, hypercatabolic
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003632071.1
Allele description
NM_004048.4(B2M):c.245T>C (p.Phe82Ser)
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: May 26, 2024