NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) AND Andersen Tawil syndrome

Clinical significance:Pathogenic (Last evaluated: Aug 6, 2015)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000193019.1

Allele description [Variation Report for NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)]

NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)

Gene:
KCNJ5:potassium inwardly rectifying channel subfamily J member 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.3
Genomic location:
Preferred name:
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
HGVS:
  • NC_000011.10:g.128916630G>C
  • NG_023406.2:g.30213G>C
  • NM_000890.5:c.1159G>CMANE SELECT
  • NM_001354169.2:c.1159G>C
  • NP_000881.3:p.Gly387Arg
  • NP_000881.3:p.Gly387Arg
  • NP_001341098.1:p.Gly387Arg
  • LRG_333t1:c.1159G>C
  • LRG_333:g.30213G>C
  • LRG_333p1:p.Gly387Arg
  • NC_000011.9:g.128786525G>C
  • NM_000890.3:c.1159G>C
  • P48544:p.Gly387Arg
Protein change:
G387R; GLY387ARG
Links:
UniProtKB: P48544#VAR_063766; OMIM: 600734.0001; dbSNP: rs199830292
NCBI 1000 Genomes Browser:
rs199830292
Molecular consequence:
  • NM_000890.5:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354169.2:c.1159G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Andersen Tawil syndrome (LQT7)
Synonyms:
Andersen Syndrome; Andersen cardiodysrhythmic periodic paralysis; Long QT syndrome 7; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008222; MedGen: C1563715; Orphanet: 37553; OMIM: 170390

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000243881GeneReviewsno assertion criteria providedPathogenic
(Aug 6, 2015)
germlineliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP.

Neurology. 2014 Mar 25;82(12):1058-64. doi: 10.1212/WNL.0000000000000239. Epub 2014 Feb 26.

PubMed [citation]
PMID:
24574546

Details of each submission

From GeneReviews, SCV000243881.1

#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: Sep 18, 2021

Support Center