B3GNT6 A191T - 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:

B3GNT6 A191T

(B3GNT6 Ala191Thr)


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

  • A @ chr11:76751166: 17.7% (1896/10702) in EVS
  • A @ chr11:76428813: 13.0% (14/108) in GET-Evidence
  • Frequency shown in summary reports: 17.7% (1896/10702)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr11:76751166

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr11:76751166

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr11:76751166

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr11:76751166

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr11:76751166

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr11:76428814

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr11:76428814

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr11:76428814

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr11:76428814

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr11:76428814

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr11:76428814

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr11:76428814

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr11:76428814

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr11:76428814

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr11:76428814

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr11:76428814

 

Other external references
 

    dbSNP
  • rs73493606
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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