FAT4 D2826N - 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:

FAT4 D2826N

(FAT4 Asp2826Asn)


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

  • A @ chr4:126370647: 1.2% (124/10746) in EVS
  • A @ chr4:126590096: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (124/10746)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr4:126370647

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr4:126370647

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr4:126590097

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr4:126590097

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr4:126590097

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr4:126590097

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr4:126590097

 

Other external references
 

    dbSNP
  • rs12508222
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.963 (probably damaging)
    Web search results (4 hits -- see all)
  • FAT4 Gene - GeneCards | FAT4 Protein | FAT4 Antibody
    FAT4 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (FAT4) OriGene 29mer shRNA kit in GFP-retroviral ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=FAT4
  • Protocadherin Fat 4 precursor - Homo sapiens (Human)
    FAT4. Synonyms: CDHF14, FATJ. ORF Names: Nbla00548. Organism. Homo ... "Comparative integromics on FAT1, FAT2, FAT3 and FAT4." Katoh Y., Katoh M. Int. J. Mol. ...
    www.uniprot.org/uniprot/Q6V0I7
  • Human protein: IPI00888207 * 542616 Da * FAT4 Isoform 3 of ...
    Human protein: IPI00888207 * 542616 Da * FAT4 Isoform 3 of Protocadherin Fat 4 ... SP Q6V0I7-3 IPI00888207 23109,FAT4; 79633,FAT4; UPI0001663082 Hs.702217; ...
    harvester.fzk.de/harvester/human/IPI00888/IPI00888207.htm
  • 79633
    The Arabidopsis Thaliana Transcription Factors Database,Genomic Transcription Factors Information about Arabidopsis thaliana
    okcam.cbi.pku.edu.cn/entry-info.php?id=79633

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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