PCDH15 S19A - 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:

(See the latest version)

PCDH15 S19A

(PCDH15 Ser19Ala)


You are viewing an old version of this page that was saved on December 27, 2009 at 4:01pm by Genome Importing Robot.

Added in this revision:

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 @ chr10:56423968: 21.8% (2347/10758) in EVS
  • C @ chr10:56093973: 21.4% (27/126) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2347/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the PCDH15 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    Usher Syndrome Type 1
    DFNB23 Nonsyndromic Hearing Loss and Deafness
    Usher Syndrome Type 1F
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCDH15
    PolyPhen-2
  • Score: 0.013 (benign)
    Web search results (8 hits -- see all)
  • protocadherin 15
    ... <pre>Substitution GV GD Prediction S19A 353.86 0.00 Enriched Neutral 1 ... G262D 0.00 93.77 Enriched Deleterious 1 D435A 44.60 95.68 Enriched Deleterious 2 ...
    www.umd.be/liens_usher/AGVGD-PCDH15.txt
  • Type I- 99%
    ... 700) Polymorphism (dbSNP:rs17853288) 15489334 FANCM Q8IYD8 S175F 175 VAR_023697 PKC (0. ... rs1805013) 9070874 11285129 PCDH15 Q96QU1 S19A 19 VAR_028289 CAMKL (0.750) CK2 (0.883) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_99.txt
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs11004439*S19A<* rs11006128*TFAM NM_003201 NP_003192*S12T%transcription factor A, ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in