LRRN3 D24G - 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:

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LRRN3 D24G

(LRRN3 Asp24Gly)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • G @ chr7:110762899: 4.6% (493/10758) in EVS
  • G @ chr7:110550134: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (493/10758)

Publications
 

Genomes
 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr7:110550135

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr7:110550135

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr7:110550135

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr7:110550135

 

Added in this revision:

GS19240 - var-GS19240-1100-36-ASM
het G @ chr7:110550135

 

NA19240

 

Other external references
 

    dbSNP
  • rs9942557
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (9 hits -- see all)
  • Leucine-rich repeat neuronal protein 3 precursor - Homo ...
    Enter your search text here. Enter your search query here. Reset button. Fields " Search ... LRRN3. ORF Names: Nbla10363, UNQ194/PRO220. Organism. Homo sapiens ...
    www.uniprot.org/uniprot/Q9H3W5
  • 0123456 − log10(p − v alue)
    rs9942557. rs214865. rs1925577. rs12264562. rs10822946. rs6480242. rs7901288. rs10997457 ... rs2619652. rs1925624. rs10762135. rs10740268. rs12785206. rs10762138. LRRTM1. LRRN1. LRRN3. LRRTM3 ...
    molecularautism.com/content/download/figures/...
  • Gene ID SNP ID Allele
    LRRN3. rs214890. T. 0.124. 107. 126. 0.854 (0.66,1.11) 0.234. 29. LRRN3. rs10261004. G. 0.207. 170 ... LRRN3. rs9942557. A. 0.947. 52. 42. 1.169 (0.76,1.79) 0.47. 32. LRRN3 ...
    molecularautism.com/content/supplementary/...
  • UniProt: Q9H3W5
    DT 01-MAR-2001, sequence version 1. DT 02-MAR-2010, entry version 78. ... DE Flags: Precursor; GN Name=LRRN3; ORFNames=Nbla10363, UNQ194/PRO220; OS Homo ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q9H3W5

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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