NPC1 M642I - GET-Evidence

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

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NPC1 M642I

(NPC1 Met642Ile)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:59pm by Genome Importing Robot.

Added in this revision:

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 @ chr18:21124945: 73.8% (7935/10758) in EVS
  • G @ chr18:19378942: 69.3% (61/88) in GET-Evidence
  • Frequency shown in summary reports: 73.8% (7935/10758)



Other external references

  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • MAF
    NPC1. rs1617407. 5'UTR (G>A) 0.425. type C1. rs1805081. H215R (T>C) 0.420. rs1788799. M642I (G>C) ... For SNPs in the 5' or 3' untranslated regions (UTR), the nucleotide change and. the ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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