USH2A N3099S - 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:

USH2A N3099S

(USH2A Asn3099Ser)


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

  • C @ chr1:216011408: 4.4% (475/10758) in EVS
  • C @ chr1:214078030: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (475/10758)

Publications
 

Genomes
 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:216011408

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr1:216011408

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:214078031

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:214078031

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:214078031

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr1:214078031

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:214078031

 

Other external references
 

    dbSNP
  • rs41277194
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the USH2A gene
    Retinitis Pigmentosa, Autosomal Recessive
    Usher Syndrome Type 2
    USH2A-Related Retinitis Pigmentosa
    Usher Syndrome Type 2A
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH2A
    PolyPhen-2
  • Score: 0.662 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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