RNF43 R343H - 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!


(See the latest version)

RNF43 R343H

(RNF43 Arg343His)

You are viewing an old version of this page that was saved on November 29, 2012 at 6:39am 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

  • 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)



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




Added in this revision:

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


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


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


Other external references

  • rs34523089
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in