MAGEC3 A328T - 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:

MAGEC3 A328T

(MAGEC3 Ala328Thr)


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

  • A @ chrX:140810792: 57.8% (48/83) in GET-Evidence
  • Frequency shown in summary reports: 57.8% (48/83)

Publications
 

Genomes
 

hu04FD18

 

hu0D879F

 

 

 

 

hu9385BA

 

huAE6220

 

huBEDA0B

 

huC30901

 

huE80E3D

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chrX:140810793

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chrX:140810793

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chrX:140810793

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chrX:140810793

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chrX:140810793

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chrX:140810793

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chrX:140810793

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chrX:140810793

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chrX:140810793

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chrX:140810793

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chrX:140810793

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chrX:140810793

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chrX:140810793

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chrX:140810793

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chrX:140810793

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chrX:140810793

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chrX:140810793

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chrX:140810793

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chrX:140810793

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chrX:140810793

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chrX:140810793

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chrX:140810793

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chrX:140810793

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chrX:140810793

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chrX:140810793

 

NA19240

 

Other external references
 

    dbSNP
  • rs176026
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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