MDN1 I4720T - 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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MDN1 I4720T

(MDN1 Ile4720Thr)

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

  • G @ chr6:90374283: 2.9% (309/10758) in EVS
  • G @ chr6:90431003: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (309/10758)






GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:90431004


GS19704 - var-GS19704-1100-36-ASM
het G @ chr6:90431004


GS19735 - var-GS19735-1100-36-ASM
het G @ chr6:90431004


Other external references

  • rs16882046
  • Score: 0.017 (benign)
    Web search results (2 hits -- see all)
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs16882046*I4720T. rs16882099*H1929D. rs16883930*SLC17A5 NM_012434 ...
  • UniProt: MDN1_HUMAN
    AC Q9NU22; O15019; Q5T794; DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot. ... containing protein; GN Name=MDN1; Synonyms=KIAA0301; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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