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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(INSC Asp333Asn)

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

  • 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)



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

  • rs17507577
  • 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 ...
  • 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. ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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