DHRS4L1 R122Shift - 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:

DHRS4L1 R122Shift

(DHRS4L1 122delRinsShift)


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

  • - @ chr14:23582863: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 2.4% (3/126)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het - @ chr14:24513024

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het - @ chr14:24513024

 

GS07357 - var-GS07357-1100-36-ASM
het - @ chr14:23582864

 

GS18505 - var-GS18505-1100-36-ASM
het - @ chr14:23582864

 

GS19025 - var-GS19025-1100-36-ASM
het - @ chr14:23582864

 

Other external references
 

    dbSNP
  • rs115878662
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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