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NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn)

Variation ID: Help
30196
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Oct 1, 2012
Number of submission(s):
1
Condition(s):
Parkinson disease 17[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn)

Allele ID:
39152
Variant type:
single nucleotide variant
Cytogenetic location:
16q11.2
Genomic location:
  • Chr16: 46662452 (on Assembly GRCh38)
  • Chr16: 46696364 (on Assembly GRCh37)
Protein change:
D620N
HGVS:
  • NG_029970.1:g.31781G>A
  • NM_018206.5:c.1858G>A
  • NP_060676.2:p.Asp620Asn
  • NC_000016.10:g.46662452C>T (GRCh38)
  • NC_000016.9:g.46696364C>T (GRCh37)
  • NM_018206.4:c.1858G>A
  • Q96QK1:p.Asp620Asn
Links:
NCBI 1000 Genomes Browser:
rs188286943
Molecular consequence:
NM_018206.5:c.1858G>A: missense variant [Sequence Ontology SO:0001583]

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
(Oct 1, 2012)
no assertion criteria providedliterature onlygermlineOMIMSCV000044406.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 19, 2017