AK8 I5T - 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:

AK8 I5T

(AK8 Ile5Thr)


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

  • None available.

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr9:135753629

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr9:135753629

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr9:135753629

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr9:135753629

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr9:135753629

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr9:134743450

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr9:134743450

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr9:134743450

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr9:134743450

 

GS19017 - var-GS19017-1100-36-ASM
hom G @ chr9:134743450

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr9:134743450

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr9:134743450

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr9:134743450

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr9:134743450

 

Other external references
 

    dbSNP
  • rs2231400
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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