DSP R1738Q - 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)

DSP R1738Q

(DSP Arg1738Gln)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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

  • A @ chr6:7581636: 19.9% (2143/10758) in EVS
  • A @ chr6:7526634: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 19.9% (2143/10758)

Publications
 

Genomes
 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:7581636

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr6:7526635

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:7526635

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr6:7526635

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:7526635

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr6:7526635

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr6:7526635

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr6:7526635

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr6:7526635

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr6:7526635

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr6:7526635

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr6:7526635

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr6:7526635

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:7526635

 

Added in this revision:

GS19648 - var-GS19648-1100-36-ASM
het A @ chr6:7526635

 

NA18517

 

NA19129

 

NA19240

 

snp-1

 

snp-2

 

snp-29

 

Other external references
 

    dbSNP
  • rs6929069
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DSP gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
    Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma
    Skin Fragility-Woolly Hair Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSP
    PolyPhen-2
  • Score: 0.295 (possibly damaging)
    Web search results (1 hit -- see all)
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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