EPSTI1 E395Shift - 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:

EPSTI1 E395Shift

(EPSTI1 395delEinsShift)


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

  • TCAGG @ chr13:42360434: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (2/128)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het TCAGG @ chr13:43462435

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het TCAGG @ chr13:43462435

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het TCAGG @ chr13:43462435

 

GS18502 - var-GS18502-1100-36-ASM
het TCAGG @ chr13:42360440

 

GS18504 - var-GS18504-1100-36-ASM
hom TCAGG @ chr13:42360440

 

GS18558 - var-GS18558-1100-36-ASM
het TCAGG @ chr13:42360440

 

GS18940 - var-GS18940-1100-36-ASM
het TCAGG @ chr13:42360440

 

GS18956 - var-GS18956-1100-36-ASM
het TCAGG @ chr13:42360435

 

GS19026 - var-GS19026-1100-36-ASM
het TCAGG @ chr13:42360440

 

GS19238 - var-GS19238-1100-36-ASM
hom TCAGG @ chr13:42360440

 

GS19239 - var-GS19239-1100-36-ASM
het TCAGG @ chr13:42360440

 

GS19240 - var-GS19240-1100-36-ASM
hom TCAGG @ chr13:42360440

 

GS19701 - var-GS19701-1100-36-ASM
het GGTCA @ chr13:42360438

 

GS21767 - var-GS21767-1100-36-ASM
het TCAGG @ chr13:42360440

 

Other external references
 

    dbSNP
  • rs61389340
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs111313375
    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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