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.

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

Curation:
Currentness:

LAMC2 T124M

(LAMC2 Thr124Met)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr1:183184690

 

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

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr1:183184690

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:183184690

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr1:183184690

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr1:183184690

 

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

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr1:183184690

 

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

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr1:181451313

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr1:181451313

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr1:181451313

 

NA12878

 

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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