NM_000071.3(CBS):c.1551G>A (p.Gln517=) AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002233199.6
Allele description [Variation Report for NM_000071.3(CBS):c.1551G>A (p.Gln517=)]
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
Condition(s)
- Name:
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Identifiers:
- MedGen: C3150344
Assertion and evidence details
Last Updated: Sep 29, 2024