RRP15 K149N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:
Currentness:

RRP15 K149N

(RRP15 Lys149Asn)


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

  • 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)

Publications
 

Genomes
 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr1:218478411

 

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
 

    dbSNP
  • rs11118075
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • 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) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RRP15
  • 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 ...
    www.uniprot.org/uniprot/Q9Y3B9

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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