NM_000155.4(GALT):c.279C>T (p.Phe93=) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002195011.6
Allele description [Variation Report for NM_000155.4(GALT):c.279C>T (p.Phe93=)]
NM_000155.4(GALT):c.279C>T (p.Phe93=)
Condition(s)
- Name:
- Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Synonyms:
- GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactose-1-phosphate uridyltransferase deficiency; Transferase Deficiency Galactosemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009258; MedGen: C0268151; Orphanet: 352; Orphanet: 79239; OMIM: 230400
-
LOC112749607 [Arachis hypogaea]
LOC112749607 [Arachis hypogaea]Gene ID:112749607Gene
-
HWC25_gp193 [Aeromonas phage 2L372D]
HWC25_gp193 [Aeromonas phage 2L372D]Gene ID:55616681Gene
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Last Updated: Sep 29, 2024