NM_000153.4(GALC):c.659G>A (p.Arg220Gln) AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395974.16
Allele description [Variation Report for NM_000153.4(GALC):c.659G>A (p.Arg220Gln)]
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
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
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DC053259 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC053259 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk1o23ex 5', mRNA sequencegi|118975550|gnl|dbEST|43276073|dbj 3259.1|Nucleotide
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AGENCOURT_13329128 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6874526 3', mR...
AGENCOURT_13329128 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6874526 3', mRNA sequencegi|29482699|gnl|dbEST|17308251|gb|C 69.1|Nucleotide
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Last Updated: Oct 13, 2024