PCDH15 G380S - 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:

PCDH15 G380S

(PCDH15 Gly380Ser)


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

  • T @ chr10:55625615: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 22.7% (29/128)

Publications
 

Genomes
 

hu604D39

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr10:55625616

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr10:55625616

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr10:55625616

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr10:55625616

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr10:55625616

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr10:55625616

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr10:55625616

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr10:55625616

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:55625616

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:55625616

 

GS19238 - var-GS19238-1100-36-ASM
hom T @ chr10:55625616

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr10:55625616

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr10:55625616

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr10:55625616

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr10:55625616

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr10:55625616

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr10:55625616

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr10:55625616

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr10:55625616

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr10:55625616

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr10:55625616

 

Other external references
 

    dbSNP
  • rs10825269
    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 (benign)
    Web search results (3 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... Polymorphism (dbSNP:rs3865205) 9920877 ST5 P78524 K316N 322 VAR_027101 STE20 (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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