SAGE1 N741K - 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:

SAGE1 N741K

(SAGE1 Asn741Lys)


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

  • G @ chrX:134993814: 4.0% (350/8761) in EVS
  • G @ chrX:134821479: 6.5% (6/92) in GET-Evidence
  • Frequency shown in summary reports: 4.0% (350/8761)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chrX:134993814

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chrX:134821480

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chrX:134821480

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chrX:134821480

 

Other external references
 

    dbSNP
  • rs35470903
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.949 (probably damaging)
    Web search results (2 hits -- see all)
  • SAGE1 Gene - GeneCards | SAGE1 Protein | SAGE1 Antibody
    EntrezGene summary for SAGE1: This gene belongs to a class of genes that are activated in ... SAGE1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=SAGE1
  • Sarcoma antigen 1 - Homo sapiens (Human)
    ... OS=Homo sapiens GN=SAGE1 PE=2 SV=2 MQASPLQTSQPTPPEELHAAAYVFTNDGQQMRSDEVNLVATGHQSKKKHSRKSKRHSSSK ... SAGE1. Synonyms: SAGE. Organism. Homo sapiens (Human) [Complete proteome] ...
    www.uniprot.org/uniprot/Q9NXZ1

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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