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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(RASAL1 Val11Leu)

You are viewing the latest version of this page, saved on November 29, 2012 at 7:09am by Genome Importing Robot.

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

  • 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)



Added in this revision:

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

  • rs7960087
  • 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, ...
  • 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 ...
  • 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 ...
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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