NRIP1 Y315F - GET-Evidence

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

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(NRIP1 Tyr315Phe)

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

  • 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)



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

  • rs2228507
  • 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 ...
  • 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 ...
  • 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 ...
  • 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, ...
  • (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: ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: NRIP1 ... common polymorphism; associated with endometriosis in a case-control study ...
  • 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. ...
  • 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 : ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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