NRIP1 Y315F - GET-Evidence

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

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Curation:
Currentness:

NRIP1 Y315F

(NRIP1 Tyr315Phe)


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

  • A @ chr21:16339570: 0.9% (98/10758) in EVS
  • A @ chr21:15261440: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (98/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr21:16339570

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr21:16339570

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr21:15261441

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr21:15261441

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr21:15261441

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr21:15261441

 

Other external references
 

    dbSNP
  • rs2228507
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (13 hits -- see all)
  • Nuclear receptor-interacting protein 1 - Homo sapiens (Human)
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... NRIP1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ...
    www.uniprot.org/uniprot/P48552
  • NURSA | The nuclear receptor transcriptional coregulator RIP140
    ... NLS: nuclear localization signals; NR: nuclear receptor; NRIP1: nuclear receptor ... gene is also known as NRIP1 (Nuclear Receptor-Interacting Protein 1) which ...
    www.nursa.org/article.cfm?doi=10.1621/nrs.04024
  • The nuclear receptor transcriptional coregulator RIP140
    signals; NR: nuclear receptor; NRIP1: nuclear receptor interacting protein 1; RD: ... RIP140 gene is also known as NRIP1 (Nuclear. Receptor-Interacting Protein 1) which is the ...
    www.nursa.org/retrieveFile.cfm?type=NRS&file=nrs04024.pdf
  • dbQSNP public
    Upstream region of NRIP1 (NM_003489.2) KG14C2355. not found. 21. 15,261,337 ... region of NRIP1 (NM_003489.2) KG07C2354. QH14653. rs2228507. 21. 15,261, ...
    qsnp.gen.kyushu-u.ac.jp/STS_result.cgi?cno=21
  • (txt)
    They are speculative and should be used for exploratory research ... Please cite this Reference- Zhang, Y et al. Medical Genomics 2010 in press. Contact: ...
    www.grc.nia.nih.gov/branches/rrb/dna/data/table-s7.txt
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NRIP1 ... common polymorphism; associated with endometriosis in a case-control study ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=NRIP1&geneid=8204
  • UniProt: P48552
    CC -!- DISEASE: Genetic variation in NRIP1 may act as predisposing factor CC for ... DR H-InvDB; HIX0027827; -. DR HGNC; HGNC:8001; NRIP1. DR MIM; 602490; gene. ...
    www.genome.jp/dbget-bin/www_bget?uniprot+P48552
  • dbQSNP System
    NRIP1. Locus Information 1. Upstream region of NRIP1 (NM_003489.2) Link to : DBTSS ... rs2228507. Genotype. A/T. Pos. in Consensus. 417. Pos. in Chromosome. 21 : ...
    qsnp.gen.kyushu-u.ac.jp/STS_info.cgi?stsnum=KG07C2354

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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