NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro) AND Dent disease 1

Clinical significance:Pathogenic (Last evaluated: Aug 9, 2012)

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:
RCV000033876.2

Allele description [Variation Report for NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro)]

NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro)

Gene:
CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_000084.4(CLCN5):c.674T>C (p.Leu225Pro)
HGVS:
  • NC_000023.11:g.50081798T>C
  • NG_007159.3:g.164183T>C
  • NM_000084.4:c.674T>C
  • NM_001127899.3:c.884T>C
  • NP_000075.1:p.Leu225Pro
  • NP_001121371.1:p.Leu295Pro
  • NC_000023.10:g.49846455T>C
  • NM_000084.2:c.674T>C
  • P51795:p.Leu225Pro
Protein change:
L225P
Links:
UniProtKB: P51795#VAR_065596; dbSNP: 273585645
NCBI 1000 Genomes Browser:
rs273585645
Molecular consequence:
  • NM_001127899.3:c.884T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dent disease 1 (NPHL2)
Synonyms:
NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED; Nephrolithiasis, hypercalciuric; Dent disease; See all synonyms [MedGen]
Identifiers:
MedGen: C1848336; Orphanet: 1652; Orphanet: 93622; OMIM: 300009
Age of onset:
Childhood

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057784GeneReviewsno assertion criteria providedpathologic
(Aug 9, 2012)
not providedcuration

Summary from all submissions

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

Details of each submission

From GeneReviews, SCV000057784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 6, 2016