SYNE1 L8741M - 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:

SYNE1 L8741M

(SYNE1 Leu8741Met)


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 @ chr6:152443744: 10.4% (1116/10758) in EVS
  • T @ chr6:152485436: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 10.4% (1116/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr6:152443744

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr6:152443744

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr6:152443744

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr6:152443744

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr6:152443744

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr6:152443744

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:152443744

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:152443744

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:152485437

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:152485437

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr6:152485437

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr6:152485437

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr6:152485437

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:152485437

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr6:152485437

 

Other external references
 

    dbSNP
  • rs2295190
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.088 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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