NM_001008216.2(GALE):c.238-17C>T AND UDPglucose-4-epimerase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003608941.2
Allele description [Variation Report for NM_001008216.2(GALE):c.238-17C>T]
NM_001008216.2(GALE):c.238-17C>T
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
-
DNA glycosylase superfamily protein [Arabidopsis thaliana]
DNA glycosylase superfamily protein [Arabidopsis thaliana]gi|18398099|ref|NP_566325.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024