PKD2L1 R681L - 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:

PKD2L1 R681L

(PKD2L1 Arg681Leu)


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 @ chr10:102050242: 6.8% (732/10758) in EVS
  • A @ chr10:102040231: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 6.8% (732/10758)

Publications
 

Genomes
 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr10:102050242

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr10:102050242

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:102040232

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr10:102040232

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr10:102040232

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr10:102040232

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr10:102040232

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr10:102040232

 

Other external references
 

    dbSNP
  • rs6584356
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.387 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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