SLAMF1 F11L - 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:

SLAMF1 F11L

(SLAMF1 Phe11Leu)


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 @ chr1:160616703: 14.2% (1526/10758) in EVS
  • T @ chr1:158883326: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 14.2% (1526/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr1:160616703

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr1:160616703

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:160616703

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom T @ chr1:160616703

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:160616703

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr1:160616703

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr1:160616703

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr1:160616703

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr1:160616703

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr1:160616703

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr1:160616703

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr1:158883327

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr1:158883327

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr1:158883327

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:158883327

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:158883327

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr1:158883327

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr1:158883327

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:158883327

 

Other external references
 

    dbSNP
  • rs2295612
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.005 (benign)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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