NM_000218.2(KCNQ1):c.2T>C (p.Met1Thr) AND KCNQ1-related Jervell and Lange-Nielsen syndrome

Clinical significance:not provided

Review status:(0/4)0 stars out of maximum of 4 stars

not classified by submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000046046.2

Allele description [Variation Report for ]

Gene:
KCNQ1:potassium channel, voltage gated KQT-like subfamily Q, member 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000011.10:g.2445100T>C
  • NG_008935.1:g.5110T>C
  • NM_000218.2:c.2T>C
  • NP_000209.2:p.Met1Thr
  • LRG_287t1:c.2T>C
  • LRG_287:g.5110T>C
  • LRG_287p1:p.Met1Thr
  • NC_000011.9:g.2466330T>C
Protein change:
M1T
Links:
dbSNP: 199473485
NCBI 1000 Genomes Browser:
rs199473485
Molecular consequence:
  • NM_000218.2:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
KCNQ1-related Jervell and Lange-Nielsen syndrome
Identifiers:
MedGen: CN177652

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000074059Invitaeclassified by single submitternot providedgermlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.

Wang RR, Li N, Zhang YH, Wang LL, Teng SY, Pu JL.

Int J Mol Med. 2011 Jul;28(1):41-6. doi: 10.3892/ijmm.2011.642. Epub 2011 Mar 4.

PubMed [citation]
PMID:
21380488

Details of each submission

From Invitae, SCV000074059.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 4, 2015

Write to the Help Desk