NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002501382.1
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)]
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
Condition(s)
- Name:
- Phosphate transport defect (GSD1C)
- Synonyms:
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
- Identifiers:
- MedGen: C0342749; Orphanet: 364; Orphanet: 79259; OMIM: 232240
Assertion and evidence details
Last Updated: Oct 8, 2024