NM_000155.4(GALT):c.777G>A (p.Arg259=) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- May 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002104230.7
Allele description [Variation Report for NM_000155.4(GALT):c.777G>A (p.Arg259=)]
NM_000155.4(GALT):c.777G>A (p.Arg259=)
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
-
MAGEC3 MAGE family member C3 [Homo sapiens]
MAGEC3 MAGE family member C3 [Homo sapiens]Gene ID:139081Gene
-
Gene Links for GEO Profiles (Select 87939341) (1)
Gene
-
THNSL1 threonine synthase like 1 [Homo sapiens]
THNSL1 threonine synthase like 1 [Homo sapiens]Gene ID:79896Gene
-
Gene Links for GEO Profiles (Select 86148485) (1)
Gene
-
Gene Links for GEO Profiles (Select 86173015) (1)
Gene
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Last Updated: Sep 29, 2024