RNF43 R343H - GET-Evidence

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

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RNF43 R343H

(RNF43 Arg343His)

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



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

  • 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":

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