NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002485875.1
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)]
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
Condition(s)
- Name:
- Phosphate transport defect (GSD1C)
- Synonyms:
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
- Identifiers:
- MedGen: C0342749; Orphanet: 364; Orphanet: 79259; OMIM: 232240
-
LOC100565422 [Anolis carolinensis]
LOC100565422 [Anolis carolinensis]Gene ID:100565422Gene
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Last Updated: Sep 29, 2024