U.S. flag

An official website of the United States government

  • delete

NM_000218.2(KCNQ1):c.1166C>A (p.Ser389Tyr) AND Long QT syndrome, LQT1 subtype

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification 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:
RCV000045970.2

Allele description

NM_000218.2(KCNQ1):c.1166C>A (p.Ser389Tyr)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.1166C>A (p.Ser389Tyr)
HGVS:
  • NC_000011.10:g.2587607C>A
  • NG_008935.1:g.147617C>A
  • NM_000218.2:c.1166C>A
  • NM_181798.1:c.785C>A
  • NP_000209.2:p.Ser389Tyr
  • NP_861463.1:p.Ser262Tyr
  • LRG_287t1:c.1166C>A
  • LRG_287t2:c.785C>A
  • LRG_287:g.147617C>A
  • LRG_287p1:p.Ser389Tyr
  • LRG_287p2:p.Ser262Tyr
  • NC_000011.9:g.2608837C>A
  • P51787:p.Ser389Tyr
Protein change:
S262Y
Links:
UniProtKB: P51787#VAR_068313; dbSNP: rs199472773
NCBI 1000 Genomes Browser:
rs199472773
Molecular consequence:
  • NM_000218.2:c.1166C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome, LQT1 subtype
Identifiers:
MedGen: CN177655

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073983Invitae,
no classification provided
not providedgermlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476

Details of each submission

From Invitae,, SCV000073983.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017