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NM_018206.5(VPS35):c.1550T>G (p.Phe517Cys)

Variation ID: Help
579180
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Feb 27, 2018
Number of submission(s):
1
Condition(s):
Parkinson disease 17[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_018206.5(VPS35):c.1550T>G (p.Phe517Cys)

Allele ID:
570298
Variant type:
single nucleotide variant
Cytogenetic location:
16q11.2
Genomic location:
  • Chr16: 46669027 (on Assembly GRCh38)
  • Chr16: 46702939 (on Assembly GRCh37)
Protein change:
F517C
HGVS:
  • NG_029970.1:g.25206T>G
  • NM_018206.5:c.1550T>G
  • NP_060676.2:p.Phe517Cys
  • NC_000016.10:g.46669027A>C (GRCh38)
  • NC_000016.9:g.46702939A>C (GRCh37)
  • NM_018206.4:c.1550T>G
Molecular consequence:
NM_018206.5:c.1550T>G: 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
Uncertain significance
(Feb 27, 2018)
criteria provided, single submitter
clinical testinggermlineInvitaeSCV000831250.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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