SLC35C1 F104L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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SLC35C1 F104L

(SLC35C1 Phe104Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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