NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) AND Leukoencephalopathy with ataxia

Clinical significance:Uncertain significance (Last evaluated: Sep 9, 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:
RCV000201809.1

Allele description [Variation Report for NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)]

NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

Gene:
CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
Preferred name:
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
HGVS:
  • NC_000003.12:g.184353341C>T
  • NG_016422.1:g.13263G>A
  • NM_001171087.3:c.1886G>A
  • NM_001171088.3:c.1805G>A
  • NM_001171089.3:c.1937G>A
  • NM_004366.6:c.1937G>AMANE SELECT
  • NP_001164558.1:p.Arg629Gln
  • NP_001164559.1:p.Arg602Gln
  • NP_001164560.1:p.Arg646Gln
  • NP_004357.3:p.Arg646Gln
  • NP_004357.3:p.Arg646Gln
  • NC_000003.11:g.184071129C>T
  • NM_004366.5:c.1937G>A
  • P51788:p.Arg646Gln
Protein change:
R602Q
Links:
UniProtKB: P51788#VAR_057892; dbSNP: rs115961753
NCBI 1000 Genomes Browser:
rs115961753
Molecular consequence:
  • NM_001171087.3:c.1886G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171088.3:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171089.3:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004366.6:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukoencephalopathy with ataxia (LKPAT)
Synonyms:
Leukoencephalopathy with white matter edema; Brain white matter edema; Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Identifiers:
MONDO: MONDO:0014292; MedGen: C4554120; Orphanet: 363540; OMIM: 615651

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256568GeneReviewsno assertion criteria providedUncertain significance
(Sep 9, 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

Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

Paul J, Jeyaraj S, Huber SM, Seebohm G, Böhmer C, Lang F, Kremsner PG, Kun JF.

Cell Physiol Biochem. 2007;20(5):441-54.

PubMed [citation]
PMID:
17762171

Details of each submission

From GeneReviews, SCV000256568.1

#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

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