SLC28A1 L140LV - 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.

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Curation:
Currentness:

SLC28A1 L140LV

(SLC28A1 140delLinsLV)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het TTG @ chr15:85438312

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het TTG @ chr15:85438312

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom TTG @ chr15:85438312

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom TTG @ chr15:85438312

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het TTG @ chr15:85438312

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom TTG @ chr15:85438312

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het TTG @ chr15:85438312

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het TTG @ chr15:85438312

 

hu6E4515 - CGI sample GS000005532
het TTG @ chr15:85438312

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het TTG @ chr15:85438312

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het TTG @ chr15:85438312

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het TTG @ chr15:85438312

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het TTG @ chr15:85438312

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom TTG @ chr15:85438312

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het TTG @ chr15:85438312

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het TTG @ chr15:85438312

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het TTG @ chr15:85438312

 

Other external references
 

    dbSNP
  • rs17215836
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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