NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala) AND Congenital glucose-galactose malabsorption
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001144294.4
Allele description [Variation Report for NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)]
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
Condition(s)
- Name:
- Congenital glucose-galactose malabsorption (GGM)
- Synonyms:
- Glucose galactose malabsorption deficiency; Carbohydrate intolerance of glucose galactose; Complex carbohydrate intolerance; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011731; MedGen: C0268186; Orphanet: 35710; OMIM: 606824
Assertion and evidence details
Last Updated: Apr 9, 2023