NM_000155.4(GALT):c.554C>T (p.Pro185Leu) AND Galactosemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 22, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001826495.2
Allele description [Variation Report for NM_000155.4(GALT):c.554C>T (p.Pro185Leu)]
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
Condition(s)
- Name:
- Galactosemia
- Synonyms:
- Galactose intolerance
- Identifiers:
- MONDO: MONDO:0018116; MedGen: C0016952; OMIM: PS230400; Human Phenotype Ontology: HP:0004919
Assertion and evidence details
Last Updated: Sep 29, 2024