FREM1 D1273E - 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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FREM1 D1273E

(FREM1 Asp1273Glu)

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

  • T @ chr9:14797516: 5.6% (544/9666) in EVS
  • T @ chr9:14787515: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (544/9666)



huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr9:14797516


GS18508 - var-GS18508-1100-36-ASM
het T @ chr9:14787516


GS19020 - var-GS19020-1100-36-ASM
het T @ chr9:14787516


GS19026 - var-GS19026-1100-36-ASM
het T @ chr9:14787516


GS19703 - var-GS19703-1100-36-ASM
het T @ chr9:14787516


GS19704 - var-GS19704-1100-36-ASM
het T @ chr9:14787516


Other external references

  • rs7025814
  • Score: 0.997 (probably damaging)
    Web search results (4 hits -- see all)
  • FREM1 Gene - GeneCards | FREM1 Protein | FREM1 Antibody
    FREM1 Gene. protein-coding GIFtS: 51. GC09M014730. FRAS1 related ... FREM1 Gene in genomic location: bands according to Ensembl, locations according ...
  • FRAS1-related extracellular matrix protein 1 precursor - Homo ...
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... FREM1. Synonyms: C9orf143, C9orf145, C9orf154. Organism. Homo sapiens ...
  • UniProt: Q5H8C1
    DT 25-NOV-2008, sequence version 3. DT 20-APR-2010, entry version 64. ... DE Flags: Precursor; GN Name=FREM1; Synonyms=C9orf143, C9orf145, C9orf154; OS Homo ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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