NM_000071.3(CBS):c.359_368del (p.Asp120fs) AND Abnormality of metabolism/homeostasis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001814578.1
Allele description [Variation Report for NM_000071.3(CBS):c.359_368del (p.Asp120fs)]
NM_000071.3(CBS):c.359_368del (p.Asp120fs)
Condition(s)
- Name:
- Abnormality of metabolism/homeostasis
- Identifiers:
- MedGen: C4021768; Human Phenotype Ontology: HP:0001939
Assertion and evidence details
Last Updated: Dec 24, 2023