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NM_004562.2(PRKN):c.443T>A (p.Val148Glu)

Variation ID: Help
409269
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Apr 29, 2016
Number of submission(s):
1
Condition(s):
Parkinson disease 2[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004562.2(PRKN):c.443T>A (p.Val148Glu)

Allele ID:
395079
Variant type:
single nucleotide variant
Cytogenetic location:
6q26
Genomic location:
  • Chr6: 162201222 (on Assembly GRCh38)
  • Chr6: 162622254 (on Assembly GRCh37)
Protein change:
V148E
HGVS:
  • NG_008289.2:g.531581T>A
  • NM_004562.2:c.443T>A
  • NM_013988.2:c.172-227805T>A
  • NP_004553.2:p.Val148Glu
  • NC_000006.12:g.162201222A>T (GRCh38)
  • NC_000006.11:g.162622254A>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs1060502319
Molecular consequence:
  • NM_004562.2:c.443T>A: missense variant SO:0001583
  • NM_013988.2:c.172-227805T>A: intron variant SO:0001627
Allele frequency:
The Genome Aggregation Database (gnomAD), exomes 0.00000

1 Affected gene

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
Uncertain significance
(Apr 29, 2016)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000549207.2
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jan 26, 2019

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