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.

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(SAGE1 Asn741Lys)

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

  • 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)



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

  • rs35470903
  • 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 ...
  • 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] ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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