NM_000153.4(GALC):c.984G>A (p.Gln328=) AND Galactosylceramide beta-galactosidase deficiency
- Germline classification:
- Benign (5 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:
- RCV000343591.16
Allele description [Variation Report for NM_000153.4(GALC):c.984G>A (p.Gln328=)]
NM_000153.4(GALC):c.984G>A (p.Gln328=)
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
-
zinc finger protein 827 isoform X11 [Homo sapiens]
zinc finger protein 827 isoform X11 [Homo sapiens]gi|1034638524|ref|XP_016863265.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 10, 2024