ST6GALNAC1 V80A - 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:

ST6GALNAC1 V80A

(ST6GALNAC1 Val80Ala)


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

  • G @ chr17:74625686: 10.9% (1173/10758) in EVS
  • G @ chr17:72137280: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 10.9% (1173/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr17:74625686

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr17:74625686

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr17:74625686

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr17:74625686

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr17:74625686

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr17:74625686

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr17:72137281

 

GS18501 - var-GS18501-1100-36-ASM
het G @ chr17:72137281

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr17:72137281

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr17:72137281

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr17:72137281

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr17:72137281

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr17:72137281

 

Other external references
 

    dbSNP
  • rs8077382
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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