CFTR V470M - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

CFTR V470M

(CFTR Val470Met)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm 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

  • A @ chr7:117199533: 60.7% (6532/10758) in EVS
  • A @ chr7:116986768: 66.4% (85/128) in GET-Evidence
  • Frequency shown in summary reports: 60.7% (6532/10758)

Publications
 

Genomes
 

NA12878

 

Added in this revision:

NA18507

 

NA18517

 

NA18555

 

NA19129

 

NA19240

 

snp-3

 

Other external references
 

    GeneTests
  • GeneTests records for the CFTR gene
    CFTR-Related Disorders
    CFTR-Related Hereditary Pancreatitis
    Hereditary Pancreatitis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (8 hits -- see all)
  • AceView: Gene:CFTR, 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=CFTR
  • Table 2 : Robust associations of four new chromosome regions ...
    Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human traits and ...
    www.nature.com/ng/journal/v39/n7/fig_tab/ng2068_T2.html
  • 070205 HRMCA KRD Idaho Praha
    A mutations (on both alleles) in the gene coding for the CFTR protein ... sequence variations listed on this CFTR. mutation database. • Vast majority of mutations ...
    interactivebioscience.cz/admin/_docs/...
  • Science Buddies: "Ask an Expert" • View topic ...
    Donate to Science Buddies. Board index " Active Forums (Make all new posts here) " Grades 9-12 " Grades 9-12: ... snp=V470M&snp_chain=A&&message=&&locus_ac=1080&&symbol=CFTR) ...
    sciencebuddies.org/science-fair-projects/phpBB3/...&t=3625
  • CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系_第八次检验医学学术会议
    CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系. CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系. 刘奇才, 欧启水. 福建医科大学附属第一医院 ... CFTR基因10号外显子p. V470M与汉族青少年型慢性胰腺炎发病存在一定的关系,p. K483Stop为新发现的突变形式,与胰腺炎的临床表型存在相关。 ...
    www.cslm.org.cn/cn/news.asp?abid=91.html
  • Abstract Book
    Expressed PDZ-binding Chloride Channels CFTR and ClC-3B ... CFTR Co-expressed with a Large Conductance Chloride. Channel in Apical Plasma Membrane of ...
    central.igc.gulbenkian.pt/cftr/.../abstract_book2003.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in