NM_000404.4(GLB1):c.1769G>A (p.Arg590His) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 6, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000174999.2

Allele description [Variation Report for NM_000404.4(GLB1):c.1769G>A (p.Arg590His)]

NM_000404.4(GLB1):c.1769G>A (p.Arg590His)

Gene:
GLB1:galactosidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
HGVS:
  • NC_000003.12:g.32997310C>T
  • NG_009005.1:g.104893G>A
  • NM_000404.4:c.1769G>AMANE SELECT
  • NM_001079811.3:c.1679G>A
  • NM_001135602.3:c.1376G>A
  • NM_001317040.2:c.1913G>A
  • NM_001393580.1:c.1734+16746G>A
  • NP_000395.2:p.Arg590His
  • NP_000395.3:p.Arg590His
  • NP_001073279.2:p.Arg560His
  • NP_001129074.2:p.Arg459His
  • NP_001303969.2:p.Arg638His
  • NC_000003.11:g.33038802C>T
  • NM_000404.2:c.1769G>A
Protein change:
R459H
Links:
dbSNP: rs398123351
NCBI 1000 Genomes Browser:
rs398123351
Molecular consequence:
  • NM_001393580.1:c.1734+16746G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000404.4:c.1769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001079811.3:c.1679G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001135602.3:c.1376G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001317040.2:c.1913G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226418EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 6, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226418.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Nov 27, 2021

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