ALMS1 V671G - 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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(ALMS1 Val671Gly)

You are viewing an old version of this page that was saved on December 27, 2009 at 4:09pm 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 @ chr2:73675669: 88.1% (8628/9794) in EVS
  • G @ chr2:73529176: 91.4% (117/128) in GET-Evidence
  • Frequency shown in summary reports: 88.1% (8628/9794)



Added in this revision:



Other external references

    Web search results (32 hits -- see all)
  • SNPs Identified in ALMS1
    V671G. T/G. WIPGA_03_505. 2298. chr2:73650382. Silent. view. F729F. C/T ... and Genotyping > Candidate Gene List > ALMS1 Main Page > SNPs Identified in ALMS1 ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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