NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 12, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000323077.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys)]

NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.1253G>A (p.Arg418Lys)
HGVS:
  • NC_000009.12:g.135765676G>A
  • NG_033070.1:g.68492G>A
  • NM_001272003.2:c.1118G>A
  • NM_020822.3:c.1253G>AMANE SELECT
  • NP_001258932.1:p.Arg373Lys
  • NP_065873.2:p.Arg418Lys
  • NC_000009.11:g.138657522G>A
Protein change:
R373K
Links:
dbSNP: rs886043301
NCBI 1000 Genomes Browser:
rs886043301
Molecular consequence:
  • NM_001272003.2:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000339338EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Feb 12, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000339338.4

#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: Oct 30, 2020

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