NM_000071.3(CBS):c.1413G>C (p.Gly471=) AND Classic homocystinuria
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 26, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000648124.6
Allele description
NM_000071.3(CBS):c.1413G>C (p.Gly471=)
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: Jan 21, 2023