NM_000153.4(GALC):c.1592G>C (p.Arg531Pro) AND Galactosylceramide beta-galactosidase deficiency

Clinical significance:Uncertain significance (Last evaluated: Dec 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761503.1

Allele description [Variation Report for NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)]

NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)
HGVS:
  • NC_000014.9:g.87945631C>G
  • NG_011853.2:g.52933G>C
  • NM_000153.4:c.1592G>CMANE SELECT
  • NM_001201401.1:c.1523G>C
  • NM_001201402.1:c.1514G>C
  • NP_000144.2:p.Arg531Pro
  • NP_001188330.1:p.Arg508Pro
  • NP_001188331.1:p.Arg505Pro
  • NC_000014.8:g.88411975C>G
  • NM_000153.3:c.1592G>C
Protein change:
R505P
Links:
dbSNP: rs200378205
NCBI 1000 Genomes Browser:
rs200378205
Molecular consequence:
  • NM_000153.4:c.1592G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201401.1:c.1523G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201402.1:c.1514G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000891622Department of Genetics,Sultan Qaboos University Hospital, Omancriteria provided, single submitter
Uncertain significance
(Dec 30, 2017)
unknowncuration

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Genetics,Sultan Qaboos University Hospital, Oman, SCV000891622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2020

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