NM_000156.6(GAMT):c.456C>A (p.Ile152=) AND Cerebral creatine deficiency syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001459751.6
Allele description [Variation Report for NM_000156.6(GAMT):c.456C>A (p.Ile152=)]
NM_000156.6(GAMT):c.456C>A (p.Ile152=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024