NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val)

NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val)

Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
  • Chr12:40758762 (on Assembly GRCh37)
  • Chr12:40364960 (on Assembly GRCh38)
Protein change:
I2434V
HGVS:
  • NG_011709.1:g.144950A>G
  • NM_198578.3:c.7300A>G
  • NC_000012.12:g.40364960A>G
  • NC_000012.11:g.40758762A>G
  • NP_940980.3:p.Ile2434Val
Links:
dbSNP: 398124661
NCBI 1000 Genomes Browser:
rs398124661
Molecular consequence:
NM_198578.3:c.7300A>G: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val)

Clinical significance:
Uncertain significance
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Uncertain significance
(Jan 22, 2014)
classified by single submitter
(research)
researchnot providedNeurogenetic Laboratory,Oslo University Hospital
(Jan 28, 2014)
SCV000114941

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providednot providednot providedEuropean

Neurogenetic Laboratory

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providednot providednot providednot providedEuropeanresearchSee description

Last Updated: Aug 5, 2014

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