PKD2L1 R278Q - 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:

PKD2L1 R278Q

(PKD2L1 Arg278Gln)


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 @ chr10:102057262: 5.0% (542/10758) in EVS
  • T @ chr10:102047251: 8.6% (11/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (542/10758)

Publications
 

Genomes
 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr10:102057262

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr10:102047252

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr10:102047252

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr10:102047252

 

GS19020 - var-GS19020-1100-36-ASM
hom T @ chr10:102047252

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:102047252

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr10:102047252

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr10:102047252

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr10:102047252

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr10:102047252

 

Other external references
 

    dbSNP
  • rs17112895
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.829 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in