NM_000071.3(CBS):c.165G>A (p.Gln55=) AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002104527.5
Allele description [Variation Report for NM_000071.3(CBS):c.165G>A (p.Gln55=)]
NM_000071.3(CBS):c.165G>A (p.Gln55=)
Condition(s)
- Name:
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Identifiers:
- MedGen: C3150344
-
PEMT [Buceros rhinoceros silvestris]
PEMT [Buceros rhinoceros silvestris]Gene ID:104500106Gene
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Last Updated: Feb 28, 2024