ALS2 I94V - 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:

ALS2 I94V

(ALS2 Ile94Val)


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 @ chr2:202626437: 3.5% (349/9990) in EVS
  • C @ chr2:202334681: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 3.5% (349/9990)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:202626437

 

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr2:202334682

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr2:202334682

 

Other external references
 

    dbSNP
  • rs3219154
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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