NM_000155.4(GALT):c.507+12C>T AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001168022.14
Allele description [Variation Report for NM_000155.4(GALT):c.507+12C>T]
NM_000155.4(GALT):c.507+12C>T
Condition(s)
- Name:
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Synonyms:
- GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Transferase Deficiency Galactosemia; GALACTOSEMIA I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400
Assertion and evidence details
Last Updated: Jan 19, 2025