CLCNKB I419V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

CLCNKB I419V

(CLCNKB Ile419Val)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr1:16378000: 12.9% (1383/10758) in EVS
  • TG @ chr1:16250585: 13.3% (17/128) in GET-Evidence
  • Frequency shown in summary reports: 12.9% (1383/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het TG @ chr1:16377999

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het TG @ chr1:16377999

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het TG @ chr1:16377999

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het TG @ chr1:16377999

 

GS07357 - var-GS07357-1100-36-ASM
het TG @ chr1:16250586

 

GS18505 - var-GS18505-1100-36-ASM
het TG @ chr1:16250586

 

GS18517 - var-GS18517-1100-36-ASM
het TG @ chr1:16250586

 

GS19020 - var-GS19020-1100-36-ASM
het TG @ chr1:16250586

 

GS19025 - var-GS19025-1100-36-ASM
het TG @ chr1:16250586

 

GS19026 - var-GS19026-1100-36-ASM
het TG @ chr1:16250586

 

GS19129 - var-GS19129-1100-36-ASM
het TG @ chr1:16250586

 

GS19238 - var-GS19238-1100-36-ASM
het TG @ chr1:16250586

 

GS19240 - var-GS19240-1100-36-ASM
het TG @ chr1:16250586

 

GS19703 - var-GS19703-1100-36-ASM
het TG @ chr1:16250586

 

GS19834 - var-GS19834-1100-36-ASM
het TG @ chr1:16250586

 

GS21767 - var-GS21767-1100-36-ASM
het TG @ chr1:16250586

 

NA19240

 

Other external references
 

    dbSNP
  • rs6650118
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (11 hits -- see all)
  • Kidney International - A common sequence variation of the ...
    Kidney International aims to inform the renal researcher and practicing nephrologists on ... common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride ...
    www.nature.com/ki/journal/v65/n1/full/4494246a.html
  • A common sequence variation of the CLCNKB gene strongly ...
    A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel ... ClC-Kb variants L27R, G214A, I419V, T562M, and E578K were not ...
    www.ncbi.nlm.nih.gov/pubmed/14675050
  • Niels-Alwall-Preis
    About forty percent of the glomerulary filtered sodium chloride are reabsorbed ... Kb chloride channel activity by polymorphic variations of the CLCNKB ...
    www.nephrologie.de/174Abstract.htm
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... CK2 (0.555) Polymorphism (dbSNP:rs17655) 8483504 OR5I1 Q13606 F76S 75 VAR_024101 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Result Content View
    Loss of function mutations in the CLCNKB gene encoding for the renal chloride ... Kb chloride channel activity by polymorphic variations of the CLCNKB ...
    www.abstracts2view.com/era/view.php?nu=ERA3L_902
  • WikiGenes -
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/ref/e/14675050.html
  • A common sequence variation of the CLCNKB gene strongly ...
    BACKGROUND: Tubular transepithelial reabsorption of chloride along the nephron is a major determinant of body salt and water homeostasis and blood pressure regulation.
    www.medscape.com/medline/abstract/14675050
  • Mutations in the Chloride Channel Gene CLCNKB as a Cause of ...
    Mutations in the Chloride Channel Gene CLCNKB as a Cause of Classic Bartter Syndrome ... For mutations in CLCNKB (BS type 3), there is a report from the initial ...
    jasn.asnjournals.org/cgi/content/full/11/8/1449
  • A common sequence variation of the CLCNKB gene strongly ...
    A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel ... Kb chloride channel activity by polymorphic variations of the CLCNKB ...
    tripdatabase.com/doc/567876-A-common-sequence-variation-of-the-CLCNKB...
  • elisa-ion channel citations
    A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chlorid ... ClC-Kb variants L27R, G214A, I419V, T562M, and E578K were not ...
    www.ionchannels.org/showcitationlist.php?keyword=elisa

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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