NINL WE958Del - 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:

NINL WE958Del

(NINL 958_959delWEins)


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
hom - @ chr20:25457050

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het - @ chr20:25457050

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom - @ chr20:25457050

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het - @ chr20:25457050

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het - @ chr20:25457050

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom - @ chr20:25457050

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het - @ chr20:25457050

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het - @ chr20:25457050

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom - @ chr20:25457050

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het - @ chr20:25457050

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het - @ chr20:25457050

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het - @ chr20:25457050

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het - @ chr20:25457050

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het - @ chr20:25457050

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom - @ chr20:25457050

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom - @ chr20:25457050

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het - @ chr20:25457050

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het - @ chr20:25457050

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom - @ chr20:25457050

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het - @ chr20:25457050

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom - @ chr20:25457050

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom - @ chr20:25457050

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het - @ chr20:25457050

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het - @ chr20:25457050

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het - @ chr20:25457050

 

Other external references
 

    dbSNP
  • rs68078266
    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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