RNF43 R343H - GET-Evidence

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

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Curation:
Currentness:

RNF43 R343H

(RNF43 Arg343His)


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

  • T @ chr17:56436109: 11.6% (1246/10730) in EVS
  • T @ chr17:53791107: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 11.6% (1246/10730)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr17:56436109

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr17:56436109

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr17:56436109

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr17:56436109

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr17:56436109

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom T @ chr17:56436109

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr17:56436109

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr17:56436109

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr17:56436109

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr17:53791108

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr17:53791108

 

Other external references
 

    dbSNP
  • rs34523089
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (4 hits -- see all)
  • RNF43 Gene - GeneCards | RNF43 Protein | RNF43 Antibody
    EntrezGene summary for RNF43: RNF43 is a HAP95 (AKAP8L; MIM 609475) ... RNF43 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RNF43
  • RING finger protein 43 precursor - Homo sapiens (Human)
    "A novel oncoprotein RNF43 functions in an autocrine manner in colorectal cancer. ... cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that ...
    www.uniprot.org/uniprot/Q68DV7
  • UniProt: Q68DV7
    ... Nakamura Y.; RT "A novel oncoprotein RNF43 functions in an autocrine manner in ... "A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase RT that ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q68DV7

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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