NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Mar 2, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000250643.2

Allele description [Variation Report for NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)]

NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
Other names:
p.Ile54_Pro56dup
HGVS:
  • NC_000011.10:g.2445258_2445266dup
  • NC_000011.9:g.2466480_2466481insCGCGCCCAT
  • NG_008935.1:g.5268_5276dup
  • LRG_287t1:c.160_168dup
  • LRG_287:g.5268_5276dup
  • LRG_287p1:p.Ile54_Pro56dup
  • NC_000011.9:g.2466480_2466481insCGCGCCCAT
  • NC_000011.9:g.2466488_2466496dup
  • NC_000011.9:g.2466496_2466497insATCGCGCCC
  • NM_000218.2:c.160_168dupATCGCGCCC
  • c.160_168dupATCGCGCCC
  • p.P56_G57insIAP
Links:
OMIM: 607542.0041; dbSNP: rs397515877
NCBI 1000 Genomes Browser:
rs397515877
Observations:
2

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000318444Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 27, 2013)
germlineclinical testing

Citation Link,

SCV000318524Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 2, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot provided2not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Ambry Genetics, SCV000318524.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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