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NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del) AND Mirror movements 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000192084.1

Allele description [Variation Report for NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)]

NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)

Gene:
DCC:DCC netrin 1 receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Preferred name:
NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)
HGVS:
  • NP_005206.2:p.Asp233_Leu328del
  • NM_005215.3:c.698-?_985+?del
Note:
The genomic location for this variant will not be computed from alignment of the transcript sequence to the genome until there is experimental evidence for the genomic basis of the loss of exons from the cDNA.

Condition(s)

Name:
Mirror movements 1 (MRMV1)
Identifiers:
MONDO: MONDO:0008002; MedGen: C1834870; Orphanet: 238722; OMIM: 157600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000218416GeneReviews
no assertion criteria provided
Pathogenic
(Jan 6, 2015) 		germlineliterature only

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Congenital mirror movements: mutational analysis of RAD51 and DCC in 26 cases.

Méneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quélin C, Rudnik-Schöneborn S, Plessis G, et al.

Neurology. 2014 Jun 3;82(22):1999-2002. doi: 10.1212/WNL.0000000000000477. Epub 2014 May 7.

PubMed [citation]
PMID:
24808016
PMCID:
PMC4105259

Details of each submission

From GeneReviews, SCV000218416.1

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

Last Updated: Apr 6, 2024