AK160367 V377Shift - 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:

AK160367 V377Shift

(AK160367 377delVinsShift)


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
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het - @ chr10:135278245

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het - @ chr10:135278245

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het - @ chr10:135278245

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het - @ chr10:135278245

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom - @ chr10:135278245

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het - @ chr10:135278245

 

GS07357 - var-GS07357-1100-36-ASM
hom - @ chr10:135128247

 

GS12004 - var-GS12004-1100-36-ASM
het - @ chr10:135128247

 

GS18502 - var-GS18502-1100-36-ASM
het - @ chr10:135128247

 

GS18505 - var-GS18505-1100-36-ASM
hom - @ chr10:135128247

 

GS18517 - var-GS18517-1100-36-ASM
het - @ chr10:135128247

 

GS18526 - var-GS18526-1100-36-ASM
het - @ chr10:135128247

 

GS18947 - var-GS18947-1100-36-ASM
het - @ chr10:135128247

 

GS18956 - var-GS18956-1100-36-ASM
het - @ chr10:135128247

 

GS19017 - var-GS19017-1100-36-ASM
hom - @ chr10:135128247

 

GS19020 - var-GS19020-1100-36-ASM
hom - @ chr10:135128247

 

GS19025 - var-GS19025-1100-36-ASM
het - @ chr10:135128247

 

GS19026 - var-GS19026-1100-36-ASM
hom - @ chr10:135128247

 

GS19240 - var-GS19240-1100-36-ASM
het - @ chr10:135128235

 

GS19648 - var-GS19648-1100-36-ASM
het - @ chr10:135128247

 

GS19701 - var-GS19701-1100-36-ASM
het - @ chr10:135128247

 

GS19703 - var-GS19703-1100-36-ASM
het - @ chr10:135128247

 

GS19834 - var-GS19834-1100-36-ASM
het - @ chr10:135128247

 

GS21767 - var-GS21767-1100-36-ASM
het - @ chr10:135128247

 

Other external references
 

    dbSNP
  • rs111769579
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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