NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) AND Creatine deficiency syndrome 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830511.1
Allele description [Variation Report for NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)]
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)
Condition(s)
- Name:
- Creatine deficiency syndrome 1
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024