NM_001201402.1(GALC):c.75C>A (p.Cys25Ter) AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Uncertain significance (Last evaluated: Jun 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000675008.1

Allele description [Variation Report for NM_001201402.1(GALC):c.75C>A (p.Cys25Ter)]

NM_001201402.1(GALC):c.75C>A (p.Cys25Ter)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_001201402.1(GALC):c.75C>A (p.Cys25Ter)
HGVS:
  • NC_000014.9:g.87993425G>T
  • NG_011853.2:g.5139C>A
  • NM_001201402.1:c.75C>A
  • NP_001188331.1:p.Cys25Ter
  • NC_000014.8:g.88459769G>T
Protein change:
C25*
Links:
dbSNP: rs1307710694
NCBI 1000 Genomes Browser:
rs1307710694
Molecular consequence:
  • NM_001201402.1:c.75C>A - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000800434Counsylcriteria provided, single submitter
Uncertain significance
(Jun 7, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000800434.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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