RAB3GAP1 N598S - 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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(RAB3GAP1 Asn598Ser)

You are viewing an old version of this page that was saved on March 5, 2012 at 2:42pm 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 @ chr2:135893372: 11.5% (1232/10758) in EVS
  • G @ chr2:135609841: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 11.5% (1232/10758)



hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:135893372



Added in this revision:


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:135893372


huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:135893372


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr2:135893372


GS18537 - var-GS18537-1100-36-ASM
hom G @ chr2:135609842


GS18558 - var-GS18558-1100-36-ASM
het G @ chr2:135609842


GS18940 - var-GS18940-1100-36-ASM
hom G @ chr2:135609842


GS18942 - var-GS18942-1100-36-ASM
het G @ chr2:135609842


GS18956 - var-GS18956-1100-36-ASM
hom G @ chr2:135609842


GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:135609842


GS19670 - var-GS19670-1100-36-ASM
het G @ chr2:135609842


GS20502 - var-GS20502-1100-36-ASM
hom G @ chr2:135609842


Other external references

  • rs10445686
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • SNP link
    01 secretion machinery core component genes. 1 SNAP23. SNAP23. no cSNPs. on synaptic ... 39 Rab3GAP. RAB3GAP1. 10445686. N598S. Hapmap:0.050. http://www.ncbi.nlm. ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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