LITAF I92V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

(See the latest version)

LITAF I92V

(LITAF Ile92Val)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • C @ chr16:11647492: 16.4% (1760/10758) in EVS
  • C @ chr16:11554992: 12.5% (16/128) in GET-Evidence
  • Frequency shown in summary reports: 16.4% (1760/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr16:11647492

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr16:11647492

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr16:11647492

 

Added in this revision:

GS06994 - var-GS06994-1100-36-ASM
het C @ chr16:11554993

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr16:11554993

 

NA12878

 

snp-18

 

snp-2

 

snp-3

 

snp-5

 

Other external references
 

    dbSNP
  • rs4280262
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • Inherited Peripheral Neuropathies
    Lookup Mutations | Newest Entries | Submit Mutation | Table Legend ... Mutations in LITAF. Name. c.146C>T. Alias. Thr49Met. Description. Point mutation in coding ...
    molgen.ua.ac.be/CMTMutations/Mutations/Mutations.cfm?...

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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