NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000591412.1

Allele description [Variation Report for NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)]

NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)

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.3304C>T (p.Arg1102Cys)
HGVS:
  • NC_000015.10:g.73322789G>A
  • NG_009063.1:g.51476C>T
  • NM_005477.3:c.3304C>TMANE SELECT
  • NP_005468.1:p.Arg1102Cys
  • NC_000015.9:g.73615130G>A
  • NM_005477.2:c.3304C>T
Protein change:
R1102C
Links:
dbSNP: rs760392343
NCBI 1000 Genomes Browser:
rs760392343
Molecular consequence:
  • NM_005477.3:c.3304C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000702125EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 25, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000702125.2

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

Last Updated: Oct 8, 2021

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