NM_000113.2(TOR1A):c.934_937delAGAG (p.Arg312Phefs) AND Dystonia 1

Clinical significance:Uncertain significance (Last evaluated: Nov 17, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000020123.1

Allele description

NM_000113.2(TOR1A):c.934_937delAGAG (p.Arg312Phefs)

Gene:
TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000113.2(TOR1A):c.934_937delAGAG (p.Arg312Phefs)
HGVS:
  • NC_000009.12:g.129814034_129814037delCTCT
  • NG_008049.1:g.15126_15129delAGAG
  • NM_000113.2:c.934_937delAGAG
  • NP_000104.1:p.Arg312Phefs
  • NC_000009.11:g.132576313_132576316delCTCT
  • NP_000104.1:p.Arg312PhefsTer14
  • NP_000104.1:p.Arg312_Val313?fs
Links:
dbSNP: rs80358234
NCBI 1000 Genomes Browser:
rs80358234
Allele Frequency:
0.00001(-)
Molecular consequence:
  • NM_000113.2:c.934_937delAGAG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dystonia 1 (DYT1)
Synonyms:
Dystonia 1, modifier of; DYT1 Early-Onset Primary Dystonia; Early-Onset Primary Dystonia (DYT1)
Identifiers:
MedGen: C1851945; Orphanet: 256; OMIM: 128100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040444GeneReviewsno assertion criteria providedUncertain significance
(Nov 17, 2016)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in DYT1: extension of the phenotypic and mutational spectrum.

Kabakci K, Hedrich K, Leung JC, Mitterer M, Vieregge P, Lencer R, Hagenah J, Garrels J, Witt K, Klostermann F, Svetel M, Friedman J, Kostic V, Bressman SB, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C.

Neurology. 2004 Feb 10;62(3):395-400.

PubMed [citation]
PMID:
14872019

Myoclonus-dystonia: clinical and genetic evaluation of a large cohort.

Ritz K, Gerrits MC, Foncke EM, van Ruissen F, van der Linden C, Vergouwen MD, Bloem BR, Vandenberghe W, Crols R, Speelman JD, Baas F, Tijssen MA.

J Neurol Neurosurg Psychiatry. 2009 Jun;80(6):653-8. doi: 10.1136/jnnp.2008.162099. Epub 2008 Dec 9.

PubMed [citation]
PMID:
19066193

Details of each submission

From GeneReviews, SCV000040444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 21, 2018