ZNRF4 R163C - 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.

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Curation:
Currentness:

ZNRF4 R163C

(ZNRF4 Arg163Cys)


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 @ chr19:5455989: 4.5% (468/10506) in EVS
  • TG @ chr19:5406988: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (468/10506)

Publications
 

Genomes
 

 

 

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr19:5406989

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr19:5406989

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr19:5406989

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr19:5406989

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr19:5406989

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr19:5406989

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr19:5406989

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr19:5406989

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr19:5406989

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr19:5406989

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr19:5406989

 

Other external references
 

    dbSNP
  • rs8104246
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (3 hits -- see all)
  • ZNRF4 Gene - GeneCards | ZNRF4 Protein | ZNRF4 Antibody
    ZNRF4 Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (ZNRF4) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ZNRF4
  • Zinc/RING finger protein 4 precursor - Homo sapiens (Human)
    ZNRF4. Synonyms: RNF204. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... 1. R C: dbSNP rs8104246. VAR_030616. Natural variant. 163. 1. R H: dbSNP rs17304380. Ref.4 ...
    www.uniprot.org/uniprot/Q8WWF5
  • UniProt: Q8WWF5
    AC Q8WWF5; A8K886; O75866; DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot. ... DE Flags: Precursor; GN Name=ZNRF4; Synonyms=RNF204; OS Homo sapiens ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8WWF5

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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