LPIN1 V494M - 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:

LPIN1 V494M

(LPIN1 Val494Met)


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 @ chr2:11927238: 1.6% (174/10758) in EVS
  • A @ chr2:11844688: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (174/10758)

Publications
 

Genomes
 

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:11927238

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr2:11844689

 

Other external references
 

    dbSNP
  • rs33997857
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.004 (benign)
    Web search results (1 hit -- see all)
  • SUPPLEMENTARY METHODS
    LPIN1 sequence variants detected in a cohort of severe insulin resistant ... Joint analysis of the association between LPIN1 tagSNPs and fasting insulin or BMI in ...
    diabetes.diabetesjournals.org/.../db08-04221.suppl.doc

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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