AGL P1067S - 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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AGL P1067S

(AGL Pro1067Ser)

You are viewing an old version of this page that was saved on November 29, 2012 at 2:53am 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

  • T @ chr1:100358103: 14.0% (1504/10758) in EVS
  • T @ chr1:100130690: 11.9% (15/126) in GET-Evidence
  • Frequency shown in summary reports: 14.0% (1504/10758)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:100358103


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr1:100358103



Added in this revision:




huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr1:100358103


GS06985 - var-GS06985-1100-36-ASM
het T @ chr1:100130691


GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:100130691


GS18505 - var-GS18505-1100-36-ASM
het T @ chr1:100130691


GS18517 - var-GS18517-1100-36-ASM
het T @ chr1:100130691


GS19129 - var-GS19129-1100-36-ASM
het T @ chr1:100130691


GS19238 - var-GS19238-1100-36-ASM
het T @ chr1:100130691


GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:100130691


GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:100130691


Other external references

  • rs3753494
  • Score: 0.984 (probably damaging)
    Web search results (6 hits -- see all)
  • SNPs Identified in AGL
    P1067S. C/T. WIPGA_03_159. chr1:99821123. Intronic. view. A/G. WIPGA_03_162 ... Discovery and Genotyping > Candidate Gene List > AGL Main Page > SNPs Identified in AGL ...
  • Isolation and nucleotide sequence of human liver glycogen ...
    BioInfoBank Library :: Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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