DHRS4L1 R63S - 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:

DHRS4L1 R63S

(DHRS4L1 Arg63Ser)


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

  • A @ chr14:24507010: 26.7% (2868/10758) in EVS
  • A @ chr14:23576849: 33.3% (40/120) in GET-Evidence
  • Frequency shown in summary reports: 26.7% (2868/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:24507010

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr14:24507010

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr14:24507010

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr14:24507010

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr14:24507010

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr14:24507010

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr14:24507010

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr14:23576850

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr14:23576850

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr14:23576850

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr14:23576850

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr14:23576850

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr14:23576850

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr14:23576850

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr14:23576850

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr14:23576850

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr14:23576850

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr14:23576850

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr14:23576850

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr14:23576850

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr14:23576850

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr14:23576850

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr14:23576850

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr14:23576850

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr14:23576850

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr14:23576850

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr14:23576850

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr14:23576850

 

Other external references
 

    dbSNP
  • rs12587718
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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