MAGEC3 D140V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!



(MAGEC3 Asp140Val)

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 @ chrX:140794786: 5.4% (5/92) in GET-Evidence
  • Frequency shown in summary reports: 5.4% (5/92)




GS18502 - var-GS18502-1100-36-ASM
het T @ chrX:140794787


GS18505 - var-GS18505-1100-36-ASM
het T @ chrX:140794787


GS19238 - var-GS19238-1100-36-ASM
het T @ chrX:140794787


Other external references

  • rs12852593
    Web search results (4 hits -- see all)
  • MAGEC3 Gene - GeneCards | MAGC3 Protein | MAGC3 Antibody
    EntrezGene summary for MAGEC3: This gene is a member of the MAGEC ... MAGEC3 Gene in genomic location: bands according to Ensembl, locations according to (and ...
  • Mooney Lab - MutDB
    MAGEC3. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs12852593. 139. D V. NCBI. In dbsnp. None. Not scored. DBSNP:rs11095909. 154. S P. NCBI. In ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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