NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser) AND GLUT1 deficiency syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 27, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000770978.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)]
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024