NRAP L1531P - GET-Evidence

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

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(NRAP Leu1531Pro)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs11196389
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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