NM_000153.4(GALC):c.-63C>G AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Uncertain significance (Last evaluated: Apr 18, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001278964.1

Allele description [Variation Report for NM_000153.4(GALC):c.-63C>G]

NM_000153.4(GALC):c.-63C>G

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.-63C>G
HGVS:
  • NC_000014.9:g.87993227G>C
  • NG_011853.2:g.5337C>G
  • NG_011853.3:g.5337C>G
  • NM_000153.4:c.-63C>GMANE SELECT
  • NM_001201402.2:c.117+156C>G
  • NC_000014.8:g.88459571G>C
Molecular consequence:
  • NM_000153.4:c.-63C>G - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
  • NM_001201402.2:c.117+156C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Galactosylceramide beta-galactosidase deficiency (KRB)
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
SCV001466013Natera, Inc.no assertion criteria providedUncertain significance
(Apr 18, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466013.1

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

Last Updated: Oct 24, 2021

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