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NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 9, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000786138.1

Allele description [Variation Report for NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)]

NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)

Gene:
KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)
HGVS:
  • NC_000021.9:g.34449498T>C
  • NG_009091.1:g.66818A>G
  • NM_000219.6:c.137A>GMANE SELECT
  • NM_001127668.4:c.137A>G
  • NM_001127669.4:c.137A>G
  • NM_001127670.4:c.137A>G
  • NM_001270402.3:c.137A>G
  • NM_001270403.2:c.137A>G
  • NM_001270404.3:c.137A>G
  • NM_001270405.3:c.137A>G
  • NP_000210.2:p.Tyr46Cys
  • NP_001121140.1:p.Tyr46Cys
  • NP_001121141.1:p.Tyr46Cys
  • NP_001121142.1:p.Tyr46Cys
  • NP_001257331.1:p.Tyr46Cys
  • NP_001257332.1:p.Tyr46Cys
  • NP_001257333.1:p.Tyr46Cys
  • NP_001257334.1:p.Tyr46Cys
  • LRG_290t1:c.137A>G
  • LRG_290:g.66818A>G
  • NC_000021.8:g.35821796T>C
  • NM_000219.3:c.137A>G
Protein change:
Y46C
Links:
dbSNP: rs1402178514
NCBI 1000 Genomes Browser:
rs1402178514
Molecular consequence:
  • NM_000219.6:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.4:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.4:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.3:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.3:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.3:c.137A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Effect on ion channel function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0001] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924804Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Likely pathogenic
(Mar 9, 2017)
germlineprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024