NM_000157.4(GBA):c.1060G>C (p.Asp354His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 13, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000180536.1

Allele description [Variation Report for NM_000157.4(GBA):c.1060G>C (p.Asp354His)]

NM_000157.4(GBA):c.1060G>C (p.Asp354His)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA:glucosylceramidase beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA):c.1060G>C (p.Asp354His)
HGVS:
  • NC_000001.11:g.155236409C>G
  • NG_009783.1:g.13289G>C
  • NG_042867.1:g.2871C>G
  • NM_000157.4:c.1060G>CMANE SELECT
  • NM_001005741.2(GBA):c.1060G>C
  • NM_001005741.3:c.1060G>C
  • NM_001005742.3:c.1060G>C
  • NM_001171811.2:c.799G>C
  • NM_001171812.2:c.913G>C
  • NP_000148.2:p.Asp354His
  • NP_001005741.1:p.Asp354His
  • NP_001005741.1:p.Asp354His
  • NP_001005742.1:p.Asp354His
  • NP_001165282.1:p.Asp267His
  • NP_001165283.1:p.Asp305His
  • NC_000001.10:g.155206200C>G
  • NM_001005741.2(GBA):c.1060G>C
  • NM_001005741.2:c.1060G>C
  • P04062:p.Asp354His
Protein change:
D267H
Links:
UniProtKB: P04062#VAR_003292; dbSNP: rs398123526
NCBI 1000 Genomes Browser:
rs398123526
Molecular consequence:
  • NM_000157.4:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.799G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.913G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232998EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Aug 13, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232998.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

Last Updated: Sep 12, 2021

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