RNH1 P170L - GET-Evidence

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

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RNH1 P170L

(RNH1 Pro170Leu)

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 @ 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)




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

  • rs17585
  • 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 ...
  • 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 ...
  • 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 ...
  • RCSB PDB : Biology and Chemistry Report for 1Z7X - X-ray ...
    1Z7X: Inhibition of human pancreatic ribonuclease by the human ribonuclease inhibitor protein.
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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