SLAMF1 P333T - 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:

SLAMF1 P333T

(SLAMF1 Pro333Thr)


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 @ chr1:160580549: 6.3% (675/10758) in EVS
  • T @ chr1:158847172: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 6.3% (675/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr1:160580549

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:160580549

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom T @ chr1:160580549

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr1:160580549

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr1:160580549

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr1:160580549

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr1:160580549

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr1:160580549

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr1:160580549

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr1:158847173

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr1:158847173

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr1:158847173

 

Other external references
 

    dbSNP
  • rs3796504
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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