SLC35C1 F104L - 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:

SLC35C1 F104L

(SLC35C1 Phe104Leu)


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 @ chr11:45784239: 0.8% (1/118) in GET-Evidence
  • Frequency shown in summary reports: 0.8% (1/118)

Publications
 

Genomes
 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr11:45784240

 

Other external references
 

    Web search results (1 hit -- see all)
  • Supplementary Table xls.1
    rs11167744PCDHGA11 NM_018914 NP_061737*F104L#protocadherin gamma subfamily A, 11 ... 98kDa rs7128029*A39T rs7130656*SLC35C1 NM_018389 NP_060859*I240V#solute carrier ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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