CNGB1 A961V - 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:

CNGB1 A961V

(CNGB1 Ala961Val)


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 @ chr16:57935442: 4.4% (453/10290) in EVS
  • A @ chr16:56492942: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (453/10290)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr16:57935442

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr16:57935442

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr16:57935442

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:57935442

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr16:56492943

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr16:56492943

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr16:56492943

 

Other external references
 

    dbSNP
  • rs112002818
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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