THSD7A F238L - 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:

THSD7A F238L

(THSD7A Phe238Leu)


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

  • C @ chr7:11676065: 0.4% (40/10276) in EVS
  • C @ chr7:11642589: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (40/10276)

Publications
 

Genomes
 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr7:11642590

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr7:11642590

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr7:11642590

 

Other external references
 

    dbSNP
  • rs2074599
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.845 (possibly damaging)
    Web search results (3 hits -- see all)
  • THSD7A Gene - GeneCards | THS7A Protein | THS7A Antibody
    THSD7A Gene in genomic location: bands according to Ensembl, locations according to (and ... THSD7A for ontologies About GeneDecksing. Antibodies for THSD7A: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=THSD7A
  • Thrombospondin type-1 domain-containing protein 7A precursor ...
    THSD7A. Synonyms: KIAA0960. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... F L: dbSNP rs2074599. VAR_057366. Natural variant. 771. 1. D E: dbSNP ...
    www.uniprot.org/uniprot/Q9UPZ6
  • UniProt: Q9UPZ6
    DT 31-OCT-2006, sequence version 3. DT 20-APR-2010, entry version 55. ... DE Flags: Precursor; GN Name=THSD7A; Synonyms=KIAA0960; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q9UPZ6

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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