PCDH15 S19A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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PCDH15 S19A

(PCDH15 Ser19Ala)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:55am by Genome Importing Robot.

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
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom C @ chr10:56423968

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom C @ chr10:56423968

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr10:56423968

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr10:56423968

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr10:56423968

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr10:56423968

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr10:56423968

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr10:56423968

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr10:56093974

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr10:56093974

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr10:56093974

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr10:56093974

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr10:56093974

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr10:56093974

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr10:56093974

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr10:56093974

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr10:56093974

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr10:56093974

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr10:56093974

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr10:56093974

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr10:56093974

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr10:56093974

 

Other external references
 

    dbSNP
  • rs11004439
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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":

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