NM_001008216.2(GALE):c.291G>A (p.Ser97=) AND UDPglucose-4-epimerase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003502566.1
Allele description [Variation Report for NM_001008216.2(GALE):c.291G>A (p.Ser97=)]
NM_001008216.2(GALE):c.291G>A (p.Ser97=)
Condition(s)
- Name:
- UDPglucose-4-epimerase deficiency
- Synonyms:
- GALACTOSEMIA III; Galactose epimerase deficiency; UDP-Galactose-4-epimerase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009257; MedGen: C0751161; Orphanet: 352; OMIM: 230350
Assertion and evidence details
Last Updated: Jul 15, 2024