NM_003334.4(UBA1):c.122T>C (p.Met41Thr) AND UBA1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003405435.4
Allele description [Variation Report for NM_003334.4(UBA1):c.122T>C (p.Met41Thr)]
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
Condition(s)
- Name:
- UBA1-related disorder
- Synonyms:
- UBA1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Oct 8, 2024