DSP Y1512C - 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!


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DSP Y1512C

(DSP Tyr1512Cys)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:09am by Genome Importing Robot.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr6:7580958: 12.0% (1295/10758) in EVS
  • G @ chr6:7525956: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 12.0% (1295/10758)



hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr6:7580958


GS18502 - var-GS18502-1100-36-ASM
het G @ chr6:7525957


GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:7525957


GS18537 - var-GS18537-1100-36-ASM
het G @ chr6:7525957


GS18558 - var-GS18558-1100-36-ASM
het G @ chr6:7525957


GS18947 - var-GS18947-1100-36-ASM
het G @ chr6:7525957


GS18956 - var-GS18956-1100-36-ASM
hom G @ chr6:7525957


GS19020 - var-GS19020-1100-36-ASM
hom G @ chr6:7525957


GS19238 - var-GS19238-1100-36-ASM
het G @ chr6:7525957


GS19670 - var-GS19670-1100-36-ASM
het G @ chr6:7525957


GS19700 - var-GS19700-1100-36-ASM
het G @ chr6:7525957


GS19704 - var-GS19704-1100-36-ASM
hom G @ chr6:7525957


GS19735 - var-GS19735-1100-36-ASM
het G @ chr6:7525957


GS20509 - var-GS20509-1100-36-ASM
het G @ chr6:7525957


GS21767 - var-GS21767-1100-36-ASM
het G @ chr6:7525957




Deleted in this revision:





Other external references

  • rs2076299
  • 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
  • Score: 0.793 (possibly damaging)
    Web search results (7 hits -- see all)
  • SNPs Identified in DSP
    Y1512C. A/G. WIPGA_03_773. 4857. chr6:7526000. Mis-sense. view. N1526K. C/A. WIPGA_03_774. 4888 ... Candidate Gene List > DSP Main Page > SNPs Identified in DSP ...
  • SNPs Identified in DSP
    Y1512C. A/G. WIPGA_03_777. 7401. chr6:7529616. Silent. view. T2374T. C/T ... Discovery and Genotyping > Candidate Gene List > DSP Main Page > SNPs Identified in DSP ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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