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NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala) AND Parkinson disease

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000210445.1

Allele description [Variation Report for NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)]

NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)

Gene:
TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q29
Genomic location:
Preferred name:
NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala)
HGVS:
  • NC_000003.12:g.195878519A>G
  • NG_029779.1:g.35491T>C
  • NM_001010938.2:c.1160T>C
  • NM_001308046.2:c.1184T>C
  • NM_001382271.1:c.1184T>C
  • NM_001382272.1:c.1160T>C
  • NM_001382273.1:c.1088T>CMANE SELECT
  • NM_001382274.1:c.1088T>C
  • NM_001382275.1:c.1184T>C
  • NM_001386164.1:c.1088T>C
  • NM_001387707.1:c.1184T>C
  • NM_001387708.1:c.1160T>C
  • NM_001387709.1:c.1088T>C
  • NM_001387710.1:c.1088T>C
  • NM_001387711.1:c.1088T>C
  • NM_001387712.1:c.1088T>C
  • NM_001387713.1:c.1088T>C
  • NM_001387714.1:c.1088T>C
  • NM_001387715.1:c.1160T>C
  • NM_001387716.1:c.1088T>C
  • NM_001387717.1:c.1088T>C
  • NM_001387718.1:c.1088T>C
  • NM_001387719.1:c.1088T>C
  • NM_001387720.1:c.1088T>C
  • NM_001387721.1:c.1088T>C
  • NM_005781.5:c.1088T>C
  • NP_001010938.2:p.Val387Ala
  • NP_001294975.1:p.Val395Ala
  • NP_001369200.1:p.Val395Ala
  • NP_001369201.1:p.Val387Ala
  • NP_001369202.1:p.Val363Ala
  • NP_001369203.1:p.Val363Ala
  • NP_001369204.1:p.Val395Ala
  • NP_001373093.1:p.Val363Ala
  • NP_001374636.1:p.Val395Ala
  • NP_001374637.1:p.Val387Ala
  • NP_001374638.1:p.Val363Ala
  • NP_001374639.1:p.Val363Ala
  • NP_001374640.1:p.Val363Ala
  • NP_001374641.1:p.Val363Ala
  • NP_001374642.1:p.Val363Ala
  • NP_001374643.1:p.Val363Ala
  • NP_001374644.1:p.Val387Ala
  • NP_001374645.1:p.Val363Ala
  • NP_001374646.1:p.Val363Ala
  • NP_001374647.1:p.Val363Ala
  • NP_001374648.1:p.Val363Ala
  • NP_001374649.1:p.Val363Ala
  • NP_001374650.1:p.Val363Ala
  • NP_005772.3:p.Val363Ala
  • NP_005772.3:p.Val363Ala
  • NC_000003.11:g.195605390A>G
  • NM_005781.4:c.1088T>C
  • NR_170678.1:n.1162T>C
  • NR_170679.1:n.1440T>C
  • NR_170680.1:n.1173T>C
  • NR_170681.1:n.1173T>C
  • NR_170682.1:n.1440T>C
  • NR_170683.1:n.1440T>C
  • NR_170684.1:n.1026T>C
  • NR_170685.1:n.1285T>C
  • NR_170686.1:n.1198T>C
  • NR_170687.1:n.1154T>C
  • NR_170688.1:n.1440T>C
  • NR_170689.1:n.1127T>C
  • NR_170690.1:n.938T>C
  • NR_170691.1:n.1285T>C
  • NR_170692.1:n.895T>C
Protein change:
V363A
Links:
dbSNP: rs370013968
NCBI 1000 Genomes Browser:
rs370013968
Molecular consequence:
  • NM_001010938.2:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308046.2:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382271.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382272.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382273.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382274.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001382275.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386164.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387707.1:c.1184T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387708.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387709.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387710.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387711.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387712.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387713.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387714.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387715.1:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387716.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387717.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387718.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387719.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387720.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387721.1:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005781.5:c.1088T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_170678.1:n.1162T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170679.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170680.1:n.1173T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170681.1:n.1173T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170682.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170683.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170684.1:n.1026T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170685.1:n.1285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170686.1:n.1198T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170687.1:n.1154T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170688.1:n.1440T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170689.1:n.1127T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170690.1:n.938T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170691.1:n.1285T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170692.1:n.895T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Parkinson disease (PD)
Identifiers:
MONDO: MONDO:0005180; MeSH: D010300; MedGen: C0030567; OMIM: PS168600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266507Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Farlow et al. (JAMA Neurol 2016))		Uncertain significance
(Jan 1, 2016) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednoresearch

Citations

PubMed

Whole-Exome Sequencing in Familial Parkinson Disease.

Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, et al.

JAMA Neurol. 2016 Jan;73(1):68-75. doi: 10.1001/jamaneurol.2015.3266.

PubMed [citation]
PMID:
26595808
PMCID:
PMC4946647

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000266507.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 23, 2022