NM_000153.4(GALC):c.830G>A (p.Ser277Asn) AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Mar 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250794.5
Allele description [Variation Report for NM_000153.4(GALC):c.830G>A (p.Ser277Asn)]
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
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
Assertion and evidence details
Last Updated: Sep 16, 2024