NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002479008.1
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)]
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
Condition(s)
- Name:
- Phosphate transport defect (GSD1C)
- Synonyms:
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
- Identifiers:
- MedGen: C0342749; Orphanet: 364; Orphanet: 79259; OMIM: 232240
-
probable tRNA methyltransferase 9B isoform X3 [Rattus norvegicus]
probable tRNA methyltransferase 9B isoform X3 [Rattus norvegicus]gi|2678903241|ref|XP_063131506.1|Protein
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Last Updated: Oct 13, 2024