MAGEA1 T32A - 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!

Curation:
Currentness:

MAGEA1 T32A

(MAGEA1 Thr32Ala)


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 @ chrX:152482917: 24.8% (2173/8761) in EVS
  • C @ chrX:152136110: 37.0% (34/92) in GET-Evidence
  • Frequency shown in summary reports: 24.8% (2173/8761)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chrX:152482917

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chrX:152482917

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chrX:152482917

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chrX:152482917

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chrX:152482917

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chrX:152482917

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom C @ chrX:152482917

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chrX:152482917

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chrX:152136111

 

GS18504 - var-GS18504-1100-36-ASM
hom C @ chrX:152136111

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chrX:152136111

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chrX:152136111

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chrX:152136111

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chrX:152136111

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chrX:152136111

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chrX:152136111

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chrX:152136111

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chrX:152136111

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chrX:152136111

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chrX:152136111

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chrX:152136111

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chrX:152136111

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chrX:152136111

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chrX:152136111

 

GS19703 - var-GS19703-1100-36-ASM
hom C @ chrX:152136111

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chrX:152136111

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chrX:152136111

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chrX:152136111

 

Other external references
 

    dbSNP
  • rs2008160
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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