NM_000071.3(CBS):c.667-1G>C AND Classic homocystinuria
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001787317.2
Allele description [Variation Report for NM_000071.3(CBS):c.667-1G>C]
NM_000071.3(CBS):c.667-1G>C
Condition(s)
- Name:
- Classic homocystinuria
- Synonyms:
- HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE; Homocystinuria due to CBS deficiency; Homocystinuria due to cystathionine beta-synthase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009352; MedGen: C0751202; Orphanet: 394; OMIM: 236200
Assertion and evidence details
Last Updated: Dec 24, 2023