NM_001822.7(CHN1):c.628-14dup AND Duane retraction syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000294976.2

Allele description [Variation Report for NM_001822.7(CHN1):c.628-14dup]

NM_001822.7(CHN1):c.628-14dup

Gene:
CHN1:chimerin 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_001822.7(CHN1):c.628-14dup
HGVS:
  • NC_000002.12:g.174824532dup
  • NG_012642.1:g.185921dup
  • NG_012642.2:g.185921dup
  • NM_001025201.4:c.550-14dup
  • NM_001206602.2:c.253-14dup
  • NM_001371513.1:c.628-14dup
  • NM_001371514.1:c.679-14dup
  • NM_001822.7:c.628-14dupMANE SELECT
  • NC_000002.11:g.175689260dup
  • NM_001822.5:c.628-4dupT
Links:
dbSNP: rs375494218
NCBI 1000 Genomes Browser:
rs375494218
Molecular consequence:
  • NM_001025201.4:c.550-14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001206602.2:c.253-14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371513.1:c.628-14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371514.1:c.679-14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001822.7:c.628-14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Duane retraction syndrome (DRS)
Synonyms:
Duane's syndrome; Duane syndrome; RETRACTION SYNDROME
Identifiers:
MONDO: MONDO:0007473; MedGen: C0013261; Orphanet: 233; OMIM: PS126800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000419511Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000419511.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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