B4GALNT3 R992H - 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:

B4GALNT3 R992H

(B4GALNT3 Arg992His)


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 @ chr12:670595: 4.4% (476/10758) in EVS
  • A @ chr12:540855: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (476/10758)

Publications
 

Genomes
 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr12:670595

 

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr12:540856

 

Other external references
 

    dbSNP
  • rs36078145
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.997 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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