PDZRN3 A783V - 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:

PDZRN3 A783V

(PDZRN3 Ala783Val)


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 @ chr3:73433369: 25.5% (2743/10758) in EVS
  • A @ chr3:73516058: 29.8% (34/114) in GET-Evidence
  • Frequency shown in summary reports: 25.5% (2743/10758)

Publications
 

Genomes
 

 

 

 

 

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom A @ chr3:73433369

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr3:73433369

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr3:73433369

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr3:73433369

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr3:73433369

 

 

 

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr3:73516059

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr3:73516059

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr3:73516059

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr3:73516059

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr3:73516059

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr3:73516059

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr3:73516059

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr3:73516059

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr3:73516059

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr3:73516059

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr3:73516059

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr3:73516059

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr3:73516059

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr3:73516059

 

Other external references
 

    dbSNP
  • rs3205537
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.042 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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