NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) AND Cardiac arrest

Clinical significance:Uncertain significance (Last evaluated: Nov 16, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000208061.1

Allele description [Variation Report for NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)]

NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)

Gene:
HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q24.1
Genomic location:
Preferred name:
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
HGVS:
  • NC_000015.10:g.73323896C>T
  • NG_009063.1:g.50369G>A
  • NM_005477.3:c.2197G>AMANE SELECT
  • NP_005468.1:p.Val733Ile
  • NC_000015.9:g.73616237C>T
  • NM_005477.2:c.2197G>A
Protein change:
V733I
Links:
dbSNP: rs376631391
NCBI 1000 Genomes Browser:
rs376631391
Molecular consequence:
  • NM_005477.3:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiac arrest
Identifiers:
MONDO: MONDO:0000745; MedGen: C0018790; Human Phenotype Ontology: HP:0001695

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000263948Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Nov 16, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000263948.2

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

Last Updated: Oct 7, 2021

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