ALS2CR4 A356S - 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:

ALS2CR4 A356S

(ALS2CR4 Ala356Ser)


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 @ chr2:202490812: 8.3% (788/9536) in EVS
  • A @ chr2:202199056: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (788/9536)

Publications
 

Genomes
 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr2:202490812

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr2:202490812

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr2:202199057

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr2:202199057

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr2:202199057

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr2:202199057

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr2:202199057

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr2:202199057

 

Other external references
 

    dbSNP
  • rs73989521
    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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