RASAL1 V11L - 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:

RASAL1 V11L

(RASAL1 Val11Leu)


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 @ chr12:113573237: 3.0% (323/10740) in EVS
  • G @ chr12:112057619: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (323/10740)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr12:113573237

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr12:113573237

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr12:112057620

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr12:112057620

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr12:112057620

 

Other external references
 

    dbSNP
  • rs7960087
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (7 hits -- see all)
  • RASAL1 Gene - GeneCards | RASL1 Protein | RASL1 Antibody
    EntrezGene summary for RASAL1: The protein encoded by this gene is member of the GAP1 ... RASAL1 Gene in genomic location: bands according to Ensembl, ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=RASAL1
  • RasGAP-activating-like protein 1 - Homo sapiens (Human)
    RASAL1. Synonyms: RASAL. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... V L: dbSNP rs7960087. VAR_031665. Natural variant. 58. 1. T M: dbSNP ...
    www.uniprot.org/uniprot/O95294
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: RASAL1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=RASAL1&geneid=8437
  • UniProt: O95294
    DT 11-JUL-2002, sequence version 2. DT 20-APR-2010, entry version 83. ... activating-like protein 1; GN Name=RASAL1; Synonyms=RASAL; OS Homo sapiens (Human). OC ...
    www.genome.jp/dbget-bin/www_bget?uniprot+O95294

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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