USH2A E2238A - 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:

USH2A E2238A

(USH2A Glu2238Ala)


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

  • G @ chr1:216166454: 2.1% (223/10758) in EVS
  • G @ chr1:214233076: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.1% (223/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr1:216166454

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr1:216166454

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr1:214233077

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr1:214233077

 

Other external references
 

    dbSNP
  • rs41277212
    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: 0.998 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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