NM_000153.4(GALC):c.1496C>T (p.Pro499Leu) AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001904694.4
Allele description [Variation Report for NM_000153.4(GALC):c.1496C>T (p.Pro499Leu)]
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu)
Condition(s)
- Name:
- Galactosylceramide beta-galactosidase deficiency
- Synonyms:
- Krabbe leukodystrophy; Globoid cell leukoencephalopathy; Galactocerebrosidase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009499; MedGen: C0023521; Orphanet: 487; OMIM: 245200
-
3-deoxy-D-manno-octulosonic-acid transferase [Serratia rubidaea]
3-deoxy-D-manno-octulosonic-acid transferase [Serratia rubidaea]gi|1638993204|emb|VTP68631.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024