NRAP L1531P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

NRAP L1531P

(NRAP Leu1531Pro)


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

  • G @ chr10:115352005: 10.0% (1076/10758) in EVS
  • G @ chr10:115341994: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1076/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr10:115352005

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr10:115352005

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr10:115352005

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr10:115352005

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr10:115352005

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr10:115352005

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr10:115352005

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr10:115352005

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr10:115352005

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr10:115352005

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr10:115352005

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr10:115341995

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr10:115341995

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr10:115341995

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr10:115341995

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr10:115341995

 

Other external references
 

    dbSNP
  • rs11196389
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.928 (probably damaging)
    Web search results (6 hits -- see all)
  • NRAP Gene - GeneCards | NRAP Protein | NRAP Antibody
    NRAP Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (NRAP) OriGene 29mer shRNA kit in GFP-retroviral ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=NRAP
  • AceView: Gene:NRAP, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=NRAP
  • Nebulin-related-anchoring protein - Homo sapiens (Human)
    NRAP. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... "Mapping of the gene (NRAP) encoding N-RAP in the mouse and human genomes. ...
    www.uniprot.org/uniprot/Q86VF7
  • UniProt: Q86VF7
    ... anchoring protein; DE Short=N-RAP; GN Name=NRAP; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; ... R.; RT "Mapping of the gene (NRAP) encoding N-RAP in the mouse and ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q86VF7

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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