NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) AND Glycogen storage disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000601076.11
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)]
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
Condition(s)
Assertion and evidence details
Last Updated: May 25, 2025