LAMC2 T124M - 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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Curation:
Currentness:

(See the latest version)

LAMC2 T124M

(LAMC2 Thr124Met)


You are viewing an old version of this page that was saved on December 5, 2010 at 6:36pm 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

  • T @ chr1:183184690: 6.7% (717/10758) in EVS
  • T @ chr1:181451312: 4.0% (5/126) in GET-Evidence
  • Frequency shown in summary reports: 6.7% (717/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:183184690

 

Added in this revision:

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:183184690

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr1:183184690

 

NA12156

 

NA12878

 

snp-6

 

Other external references
 

    dbSNP
  • rs11586699
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.996 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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