ST6GALNAC1 I424V - 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!

Curation:
Currentness:

ST6GALNAC1 I424V

(ST6GALNAC1 Ile424Val)


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 @ chr17:74622774: 2.8% (303/10758) in EVS
  • C @ chr17:72134368: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.8% (303/10758)

Publications
 

Genomes
 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr17:74622774

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:74622774

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr17:72134369

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr17:72134369

 

Other external references
 

    dbSNP
  • rs35948039
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.221 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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