NM_001041.4(SI):c.417T>G (p.Phe139Leu) AND Sucrase-isomaltase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002484827.1
Allele description [Variation Report for NM_001041.4(SI):c.417T>G (p.Phe139Leu)]
NM_001041.4(SI):c.417T>G (p.Phe139Leu)
Condition(s)
- Name:
- Sucrase-isomaltase deficiency (CSID)
- Synonyms:
- Congenital sucrose-isomaltase malabsorption; Disaccharide intolerance, 1; Sucrose intolerance congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009114; MedGen: C1283620; Orphanet: 35122; OMIM: 222900
Assertion and evidence details
Last Updated: Sep 29, 2024