NM_000155.4(GALT):c.762G>A (p.Leu254=) AND Galactosemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001828614.2
Allele description [Variation Report for NM_000155.4(GALT):c.762G>A (p.Leu254=)]
NM_000155.4(GALT):c.762G>A (p.Leu254=)
Condition(s)
- Name:
- Galactosemia
- Synonyms:
- Galactose intolerance
- Identifiers:
- MONDO: MONDO:0018116; MedGen: C0016952; OMIM: PS230400; Human Phenotype Ontology: HP:0004919
-
LMAN2L [Pogona vitticeps]
LMAN2L [Pogona vitticeps]Gene ID:110072132Gene
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Last Updated: Sep 29, 2024