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NM_001127898.4(CLCN5):c.1176del (p.Phe392fs) AND Dent disease type 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001200921.1

Allele description [Variation Report for NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)]

NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)

Gene:
CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_001127898.4(CLCN5):c.1176del (p.Phe392fs)
HGVS:
  • NC_000023.11:g.50086489del
  • NG_007159.3:g.168874del
  • NM_000084.5:c.966del
  • NM_001127898.4:c.1176delMANE SELECT
  • NM_001127899.4:c.1176del
  • NM_001282163.2:c.1026del
  • NP_000075.1:p.Phe322fs
  • NP_001121370.1:p.Phe392fs
  • NP_001121371.1:p.Phe392fs
  • NP_001269092.1:p.Phe342fs
  • NC_000023.10:g.49851146del
  • NM_000084.5:c.966_966delC
Protein change:
F322fs
Links:
dbSNP: rs1933891368
NCBI 1000 Genomes Browser:
rs1933891368
Molecular consequence:
  • NM_000084.5:c.966del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127898.4:c.1176del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127899.4:c.1176del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001282163.2:c.1026del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Dent disease type 1
Synonyms:
NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED; Nephrolithiasis, hypercalciuria X-linked; Urolithiasis, hypercalciuric X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010225; MedGen: C1848336; Orphanet: 1652; Orphanet: 93622; OMIM: 300009

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001364056Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria
no assertion criteria provided
Pathogenicmaternalcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Felix Claverie-Martin Laboratory, Hospital Universitario Nuestra Senora de Candelaria, SCV001364056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023