INSC D333N - 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:

INSC D333N

(INSC Asp333Asn)


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 @ chr11:15243059: 6.0% (631/10484) in EVS
  • A @ chr11:15199634: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 6.0% (631/10484)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr11:15243059

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr11:15243059

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr11:15243059

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr11:15243059

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr11:15243059

 

Other external references
 

    dbSNP
  • rs17507577
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.985 (probably damaging)
    Web search results (3 hits -- see all)
  • INSC Gene - GeneCards | INSC Protein | INSC Antibody
    Regulatory transcription factor binding sites in the INSC gene upstream (promoter) region ... INSC Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=INSC
  • Protein inscuteable homolog - Homo sapiens (Human)
    INSC. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... INSC. MIM. 610668. gene. GenAtlas. Search... Phylogenomic databases. HOVERGEN. HBG079606. ...
    www.uniprot.org/uniprot/Q1MX18
  • UniProt: Q1MX18
    AC Q1MX18; Q1MX19; Q3C1V6; Q4AC95; Q4AC96; Q4AC97; Q4AC98; DT 17-OCT-2006, ... RecName: Full=Protein inscuteable homolog; GN Name=INSC; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q1MX18

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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