NM_001008216.2(GALE):c.912G>A (p.Val304=) AND UDPglucose-4-epimerase deficiency
- Germline classification:
- Benign/Likely benign (2 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000275225.13
Allele description [Variation Report for NM_001008216.2(GALE):c.912G>A (p.Val304=)]
NM_001008216.2(GALE):c.912G>A (p.Val304=)
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: May 12, 2024