NM_000153.4(GALC):c.752+20G>C AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002198933.6
Allele description [Variation Report for NM_000153.4(GALC):c.752+20G>C]
NM_000153.4(GALC):c.752+20G>C
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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RecName: Full=Testis-specific Y-encoded-like protein 5; Short=TSPY-like protein ...
RecName: Full=Testis-specific Y-encoded-like protein 5; Short=TSPY-like protein 5gi|160198165|sp|Q86VY4.2|TSYL5_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024