ATP7B K832R - GET-Evidence

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Curation:
Currentness:

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ATP7B K832R

(ATP7B Lys832Arg)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • C @ chr13:52524488: 55.5% (5812/10468) in EVS
  • C @ chr13:51422488: 50.8% (65/128) in GET-Evidence
  • Frequency shown in summary reports: 55.5% (5812/10468)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom C @ chr13:52524488

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr13:52524488

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr13:52524488

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom C @ chr13:52524488

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr13:52524488

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr13:52524488

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr13:52524488

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr13:52524488

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr13:52524488

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr13:52524488

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr13:51422489

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr13:51422489

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr13:51422489

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr13:51422489

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr13:51422489

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr13:51422489

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr13:51422489

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr13:51422489

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr13:51422489

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr13:51422489

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr13:51422489

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr13:51422489

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr13:51422489

 

Added in this revision:

GS18956 - var-GS18956-1100-36-ASM
het C @ chr13:51422489

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18555

 

NA18956

 

NA19129

 

NA19240

 

snp-1

 

snp-27

 

snp-3

 

snp-30

 

snp-6

 

Other external references
 

    dbSNP
  • rs1061472
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.461 (possibly damaging)
    Web search results (7 hits -- see all)
  • AceView: Gene:ATP7B, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ATP7B
  • ニュースレター
    と I1464V であった.また,ATP7B では,28種の新規を. 含む61種の多型を検出した.このうちアミノ酸置換を伴. う 多型 は , 新規 の M420V, A476T, T801P と 既知 の. A406S, V456L, K832R, I929V, R952K, P957PfsX9, ...
    www.jssx.org/jpn/newsletter/bn-pdf/24-6.pdf
  • Ad Astra - An Online Project for the Romanian Scientific ...
    Direct sequencing of all 21 exons within ATP7B gene was performed for all five WD patients. ... frameshift mutation (P767P-fs) and two were missense mutations (H1069G and K832R) ...
    ad-astra.ro/research/view_publication.php?...&lang=en
  • Ad Astra - Proiect online pentru comunitatea stiintifică ...
    Direct sequencing of all 21 exons within ATP7B gene was performed for all five WD patients. ... frameshift mutation (P767P-fs) and two were missense mutations (H1069G and K832R) ...
    ad-astra.ro/research/view_publication.php?...&lang=ro
  • Wilson disease: Identifi cation of two novel mutations and ...
    In the present study, mutations of the ATP7B gene. were sought by means of direct ... the present study, mutations of the ATP7B gene were sought by means of direct ...
    www.wjgnet.com/1007-9327/13/5147.pdf
  • Mutation analysis of the ATP7B gene and genotype/phenotype ...
    Mutation analysis of the ATP7B gene and genotype/phenotype ... the ATP7B gene. This study presents the results of comprehensive mutation analysis in 227 ...
    fnbrno.cz/.../IHOK - CMBGT/63_Mol_Genet_Metabol_2005.pdf
  • 肝豆状核变性基因外显子突变研究--《浙江大学》2003年博士论文
    鲍远程;余元勋;吴鹏;蒋怀周;汪鸿浩;;HLD ATP7B基因8、12、14、16、18号外显子突变的DNA分析(Ⅱ)[J];中国优生优育;2007年03期 ... 余元勋;朱霖;鲍远程;吴鹏;蒋怀周;汪鸿浩;;WD患者ATP7B基因exon8 DNA突变检测方法的研究[J];中国优生与遗传杂志;2007年12期 ...
    cdmd.cnki.com.cn/Article/CDMD-10335-2003081258.htm

Other in silico analyses
 

  • NBLOSUM100 score = –3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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