RNH1 P170L - 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:

RNH1 P170L

(RNH1 Pro170Leu)


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 @ chr11:499120: 12.2% (1308/10756) in EVS
  • A @ chr11:489119: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 12.2% (1308/10756)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr11:499120

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr11:499120

 

 

 

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr11:489120

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr11:489120

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr11:489120

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr11:489120

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr11:489120

 

Other external references
 

    dbSNP
  • rs17585
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.881 (probably damaging)
    Web search results (7 hits -- see all)
  • RNH1 Gene - GeneCards | RINI Protein | RINI Antibody
    RNH1 Gene in genomic location: bands according to Ensembl, locations according ... (RNH1) OriGene Purified Recombinant Human Proteins (see all 4): RNH1 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RNH1
  • Mooney Lab - MutDB
    RNH1. Number of Transcript Variants. 7. Visualize Pathways. Using web services (slow) ... None. Not scored. DBSNP:rs17585. 170. P R. NCBI. In dbsnp. None. Not scored ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=RNH1&geneid=6050
  • Ribonuclease inhibitor - Homo sapiens (Human)
    RNH1. Synonyms: PRI, RNH. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... P L: dbSNP rs17585. VAR_014726. Experimental info. Sequence conflict ...
    www.uniprot.org/uniprot/P13489
  • RCSB PDB : Biology and Chemistry Report for 1Z7X - X-ray ...
    1Z7X: Inhibition of human pancreatic ribonuclease by the human ribonuclease inhibitor protein.
    rcsb.org/pdb/explore/biologyAndChemistry.do?structureId=1Z7X
  • UniProt: P13489
    AC P13489; DT 01-JAN-1990, integrated into UniProtKB/Swiss-Prot. DT ... Placental RNase inhibitor; GN Name=RNH1; Synonyms=PRI, RNH; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot:P13489

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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