NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr) AND Duane syndrome type 1

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000709802.1

Allele description [Variation Report for NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)]

NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)

Gene:
CHN1:chimerin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_001822.7(CHN1):c.1322T>C (p.Ile441Thr)
HGVS:
  • NC_000002.12:g.174800174A>G
  • NG_012642.1:g.210269T>C
  • NG_012642.2:g.210269T>C
  • NM_001025201.4:c.1244T>C
  • NM_001206602.2:c.947T>C
  • NM_001371513.1:c.1322T>C
  • NM_001371514.1:c.1373T>C
  • NM_001822.7:c.1322T>CMANE SELECT
  • NP_001020372.2:p.Ile415Thr
  • NP_001193531.1:p.Ile316Thr
  • NP_001358442.1:p.Ile441Thr
  • NP_001358443.1:p.Ile458Thr
  • NP_001813.1:p.Ile441Thr
  • NP_001813.1:p.Ile441Thr
  • NC_000002.11:g.175664902A>G
  • NM_001822.5:c.1322T>C
  • NR_038133.2:n.1190T>C
Protein change:
I316T
Links:
dbSNP: rs552090021
NCBI 1000 Genomes Browser:
rs552090021
Molecular consequence:
  • NM_001025201.4:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001206602.2:c.947T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371513.1:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371514.1:c.1373T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001822.7:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_038133.2:n.1190T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Duane syndrome type 1 (DURS1)
Identifiers:
MONDO: MONDO:0024265; MedGen: C0994516; Orphanet: 233; OMIM: 126800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000840130GenomeConnect, ClinGenno assertion providednot providedpaternalphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840130.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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