CLCNKA A447T - 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:

CLCNKA A447T

(CLCNKA Ala447Thr)


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

  • A @ chr1:16356501: 59.9% (6448/10758) in EVS
  • A @ chr1:16229087: 67.2% (86/128) in GET-Evidence
  • Frequency shown in summary reports: 59.9% (6448/10758)

Publications
 

Genomes
 

 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr1:16356501

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:16356501

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr1:16356501

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr1:16356501

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr1:16356501

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr1:16356501

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:16356501

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr1:16229088

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr1:16229088

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr1:16229088

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr1:16229088

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr1:16229088

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr1:16229088

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr1:16229088

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr1:16229088

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr1:16229088

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:16229088

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr1:16229088

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:16229088

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr1:16229088

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr1:16229088

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:16229088

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr1:16229088

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr1:16229088

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:16229088

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr1:16229088

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr1:16229088

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr1:16229088

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr1:16229088

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr1:16229088

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr1:16229088

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr1:16229088

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr1:16229088

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr1:16229088

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr1:16229088

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:16229088

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr1:16229088

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr1:16229088

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr1:16229088

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr1:16229088

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr1:16229088

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr1:16229088

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:16229088

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr1:16229088

 

Other external references
 

    dbSNP
  • rs1805152
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (26 hits -- see all)
  • WikiGenes - CLCNKA - chloride channel Ka
    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/gene/e/1187.html
  • Publications last 5 years only.doc
    Chromosomal localization and characterization of mouse and human zinc finger ... (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA. ...
    www.physiol.usyd.edu.au/~brianm/7yrPUBS08.doc
  • Common genetic variants and haplotypes in renal CLCNKA gene ...
    We found that CLCNKA is highly significantly associated with the pressor response to an ... A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA. ...
    hmg.oxfordjournals.org/cgi/content/full/16/13/1630
  • Common genetic variants and haplotypes in renal CLCNKA gene ...
    15 SNPs spanning the length of CLCNKA and CLCNKB and six SNPs spanning the ... A447T) in exon. 13 of human kidney chloride channel gene CLCNKA. Hum. ...
    hmg.oxfordjournals.org/cgi/reprint/16/13/1630.pdf
  • Human Mutation - Wiley InterScience
    In this case, although the visual presentation will be degraded, the site should continue to be functional. ... A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA ...
    interscience.wiley.com/journal/38515/home/...
  • Discipline of Physiology 2000 Publications
    Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA. Human Mutation and Polymorphism Report 16:96. Full text ...
    www.physiol.usyd.edu.au/publications/2000
  • Dissecting Hypertension by Obesity Identifies a Locus at 1p36 ...
    2005;46:1256-1258. Published online before print October 17, 2005, doi: 10.1161/01.HYP.0000188055.13764.dc ... A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA. ...
    hyper.ahajournals.org/cgi/content/full/46/6/1256
  • DOI: 10.1161/01.HYP.0000188055.13764.dc 2005;46;1256-1258 ...
    channel genes CLCNKA and CLCNKB, the tumor necrosis. factor (TNF) ... (1339G A; A447T) in exon 13 of. human kidney chloride channel gene CLCNKA. Hum Mutat. 2000; ...
    hyper.ahajournals.org/cgi/reprint/46/6/1256.pdf
  • Mutation and Polymorphism Report
    A447T. Mutation / polymorphism type: Nucleotide substitution ... CLCNKA affects transepithelial chloride transport in the thin ascending limb of Henle's loop in the inner ...
    interscience.wiley.com/journal/38515/.../mutation/mpr139.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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