NUPL1 S166P - 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:

NUPL1 S166P

(NUPL1 Ser166Pro)


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

  • C @ chr13:25887811: 3.2% (346/10758) in EVS
  • C @ chr13:24785810: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (346/10758)

Publications
 

Genomes
 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr13:25887811

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr13:25887811

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr13:25887811

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr13:24785811

 

Other external references
 

    dbSNP
  • rs12871608
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.514 (possibly damaging)
    Web search results (4 hits -- see all)
  • NUPL1 Gene - GeneCards | NUPL1 Protein | NUPL1 Antibody
    EntrezGene summary for NUPL1: This gene encodes a member of the nucleoporin family that ... NUPL1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NUPL1
  • Nucleoporin p58/p45 - Homo sapiens (Human)
    In rat, the p62 complex contains two different isoforms of NUPL1. ... Belongs to the NUPL1 family. Sequence caution. The sequence BAA23706.2 differs from that ...
    www.uniprot.org/uniprot/Q9BVL2

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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