NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002492905.1
Allele description [Variation Report for NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)]
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
Condition(s)
- Name:
- Phosphate transport defect (GSD1C)
- Synonyms:
- GLYCOGEN STORAGE DISEASE Ic; GSD Ic
- Identifiers:
- MedGen: C0342749; Orphanet: 364; Orphanet: 79259; OMIM: 232240
-
Ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) [Mus musculus]
Ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast) [Mus musculus]gi|34786038|gb|AAH57941.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 15, 2024