PVRL4 P104T - 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:

PVRL4 P104T

(PVRL4 Pro104Thr)


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 @ chr1:161049509: 7.3% (781/10688) in EVS
  • T @ chr1:159316132: 4.8% (6/126) in GET-Evidence
  • Frequency shown in summary reports: 7.3% (781/10688)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr1:161049509

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr1:161049509

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr1:161049509

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr1:161049509

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr1:161049509

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom T @ chr1:161049509

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom T @ chr1:161049509

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr1:161049509

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:159316133

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:159316133

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:159316133

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr1:159316133

 

Other external references
 

    dbSNP
  • rs35434391
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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