ALG2 V367A - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!


ALG2 V367A

(ALG2 Val367Ala)

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 @ chr9:101980367: 5.6% (607/10758) in EVS
  • G @ chr9:101020187: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.6% (607/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr9:101980367


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr9:101980367



huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr9:101980367


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr9:101980367


GS06985 - var-GS06985-1100-36-ASM
hom G @ chr9:101020188


Other external references

  • rs35626507
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • Annales de Biologie Clinique
    Author(s) : S Vuillaumier-Barrot , Laboratoire de biochimie A, Hôpital Bichat ... ALG12 (CDG Ig), S11P (10 %) et V367A (7,5 %) sur le gène ALG2 (CDG-Ii) ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in