NM_005499.3(UBA2):c.800T>A (p.Leu267Ter) AND Chromosome 19q13.11 deletion syndrome, distal
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001255700.1
Allele description [Variation Report for NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)]
NM_005499.3(UBA2):c.800T>A (p.Leu267Ter)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022