SNAPC4 D40G - 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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Curation:
Currentness:

SNAPC4 D40G

(SNAPC4 Asp40Gly)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr9:139292762: 2.7% (291/10758) in EVS
  • C @ chr9:138412582: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (291/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr9:139292762

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr9:139292762

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr9:139292762

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr9:139292762

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr9:139292762

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr9:139292762

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr9:138412583

 

Other external references
 

    dbSNP
  • rs75200747
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.992 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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