MAGEC1 H709Y - 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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Curation:
Currentness:

MAGEC1 H709Y

(MAGEC1 His709Tyr)


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

  • T @ chrX:140995315: 8.8% (771/8761) in EVS
  • T @ chrX:140822980: 7.6% (7/92) in GET-Evidence
  • Frequency shown in summary reports: 8.8% (771/8761)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom T @ chrX:140995315

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chrX:140995315

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chrX:140995315

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chrX:140995315

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chrX:140995315

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chrX:140995315

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chrX:140822981

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chrX:140822981

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chrX:140822981

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chrX:140822981

 

Other external references
 

    dbSNP
  • rs56256227
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Melanoma-associated antigen C1 - Homo sapiens (Human)
    MAGEC1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... H Y: dbSNP rs56256227. VAR_062121. Experimental info. Sequence conflict. 221 – 225. 5. TQSTF ...
    www.uniprot.org/uniprot/O60732
  • UniProt: O60732
    AC O60732; O75451; Q8TCV4; DT 26-SEP-2001, integrated into UniProtKB/Swiss-Prot. ... GC0XP140819; -. DR H-InvDB; HIX0056126; -. DR HGNC; HGNC:6812; MAGEC1. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+O60732

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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