NM_000169.2(GLA):c.125T>C (p.Met42Thr)

Variation ID: Help
92541
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Jul 13, 2012
Number of submission(s):
1
Condition(s):
Fabry disease[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000169.2(GLA):c.125T>C (p.Met42Thr)

Allele ID:
98450
Variant type:
single nucleotide variant
Cytogenetic location:
Xq22.1
Genomic location:
  • ChrX: 101407779 (on Assembly GRCh38)
  • ChrX: 100662767 (on Assembly GRCh37)
Protein change:
M42T
HGVS:
  • NG_007119.1:g.5185T>C
  • NM_000169.2:c.125T>C
  • NP_000160.1:p.Met42Thr
  • NC_000023.11:g.101407779A>G (GRCh38)
  • LRG_672t1:c.125T>C
  • NC_000023.10:g.100662767A>G (GRCh37)
  • LRG_672p1:p.Met42Thr
  • LRG_672:g.5185T>C
Links:
dbSNP: 398123201
NCBI 1000 Genomes Browser:
rs398123201
Molecular consequence:
NM_000169.2:c.125T>C: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000169.2(GLA):c.125T>C (p.Met42Thr)

GRCh37 ChrX:100662767
Called variantsPotential variants
Sample countno data0 of 44980

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Likely pathogenic
(Jul 13, 2012)
criteria provided, single submitter
clinical testinggermlineEmory Genetics Laboratory,Emory UniversitySCV000110106.6
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Emory Genetics Laboratory,Emory Universitynot provided3germlinenot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 8, 2017