RRP15 K149N - GET-Evidence

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

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RRP15 K149N

(RRP15 Lys149Asn)

You are viewing an old version of this page that was saved on November 29, 2012 at 7:18am by Genome Importing Robot.

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

  • C @ chr1:218478411: 3.0% (319/10758) in EVS
  • C @ chr1:216545033: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (319/10758)



Added in this revision:

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom C @ chr1:218478411


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:218478411


GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:216545034


GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:216545034


GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:216545034


GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:216545034


Other external references

  • rs11118075
  • Score: 0.997 (probably damaging)
    Web search results (2 hits -- see all)
  • RRP15 Gene - GeneCards | RRP15 Protein | RRP15 Antibody
    RRP15 Gene in genomic location: bands according to Ensembl, locations according to (and ... HapMap Linkage Disequilibrium images for RRP15 (up to first 250kb) ...
  • RRP15-like protein - Homo sapiens (Human)
    sp|Q9Y3B9|RRP15_HUMAN RRP15-like protein OS=Homo sapiens GN=RRP15 PE=1 SV=2 ... Belongs to the RRP15 family. Sequence caution. The sequence AAD34110.1 ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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