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NM_000169.2(GLA):c.256T>C (p.Tyr86His)

Variation ID: Help
217381
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000169.2(GLA):c.256T>C (p.Tyr86His)

Allele ID:
214045
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
  • ChrX: 101403924 (on Assembly GRCh38)
  • ChrX: 100658912 (on Assembly GRCh37)
Protein change:
Y86H
HGVS:
  • NG_007119.1:g.9040T>C
  • NM_000169.2:c.256T>C
  • NP_000160.1:p.Tyr86His
  • NC_000023.11:g.101403924A>G (GRCh38)
  • LRG_672t1:c.256T>C
  • NC_000023.10:g.100658912A>G (GRCh37)
  • P06280:p.Tyr86His
  • LRG_672p1:p.Tyr86His
  • LRG_672:g.9040T>C
Links:
NCBI 1000 Genomes Browser:
rs869312140
Molecular consequence:
NM_000169.2:c.256T>C: missense variant [Sequence Ontology SO:0001583]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jan 1, 2014)
no assertion criteria providedresearchinheritedAlbrecht-Kossel-Institute,Medical University RostockSCV000246035.1

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Jan 1, 2014)
no assertion criteria providedresearchCondition: Deoxygalactonojirimycin response
inheritedAlbrecht-Kossel-Institute,Medical University RostockSCV000246036.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Albrecht-Kossel-Institute,Medical University Rostocknot providednot providedinheritednot providednot providedPharmacological Chaperone resp…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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