THSD7A F238L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(THSD7A Phe238Leu)

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

  • 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)



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

  • rs2074599
  • 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: ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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