CFTR V470M - GET-Evidence

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

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(CFTR Val470Met)

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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr7:117199533


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr7:117199533



hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr7:117199533


hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr7:117199533



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr7:117199533


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr7:117199533


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr7:117199533


GS06985 - var-GS06985-1100-36-ASM
hom A @ chr7:116986769


GS06994 - var-GS06994-1100-36-ASM
hom A @ chr7:116986769


GS10851 - var-GS10851-1100-36-ASM
hom A @ chr7:116986769


GS12004 - var-GS12004-1100-36-ASM
hom A @ chr7:116986769


GS18501 - var-GS18501-1100-36-ASM
hom A @ chr7:116986769


GS18502 - var-GS18502-1100-36-ASM
hom A @ chr7:116986769


GS18504 - var-GS18504-1100-36-ASM
hom A @ chr7:116986769


GS18505 - var-GS18505-1100-36-ASM
hom A @ chr7:116986769


GS18508 - var-GS18508-1100-36-ASM
het A @ chr7:116986769


GS18517 - var-GS18517-1100-36-ASM
hom A @ chr7:116986769


GS18537 - var-GS18537-1100-36-ASM
het A @ chr7:116986769


GS18555 - var-GS18555-1100-36-ASM
het A @ chr7:116986769


GS18558 - var-GS18558-1100-36-ASM
het A @ chr7:116986769


GS18940 - var-GS18940-1100-36-ASM
het A @ chr7:116986769


GS18947 - var-GS18947-1100-36-ASM
het A @ chr7:116986769


GS19017 - var-GS19017-1100-36-ASM
hom A @ chr7:116986769


GS19020 - var-GS19020-1100-36-ASM
hom A @ chr7:116986769


GS19025 - var-GS19025-1100-36-ASM
hom A @ chr7:116986769


GS19026 - var-GS19026-1100-36-ASM
hom A @ chr7:116986769


GS19129 - var-GS19129-1100-36-ASM
hom A @ chr7:116986769


GS19238 - var-GS19238-1100-36-ASM
hom A @ chr7:116986769


GS19239 - var-GS19239-1100-36-ASM
hom A @ chr7:116986769


GS19240 - var-GS19240-1100-36-ASM
hom A @ chr7:116986769


GS19648 - var-GS19648-1100-36-ASM
het A @ chr7:116986769


Added in this revision:

GS19649 - var-GS19649-1100-36-ASM
het A @ chr7:116986769






























Other external references

  • rs213950
  • GeneTests records for the CFTR gene
    CFTR-Related Disorders
    CFTR-Related Hereditary Pancreatitis
    Hereditary Pancreatitis
  • 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 ...
  • 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 ...
  • 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 ...
  • 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) ...
  • 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。 ...
  • 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 ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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