DSG2 R773K - 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.

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Curation:
Currentness:

DSG2 R773K

(DSG2 Arg773Lys)


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 @ chr18:29122799: 19.4% (1937/9974) in EVS
  • A @ chr18:27376796: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 19.4% (1937/9974)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr18:29122799

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr18:29122799

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom A @ chr18:29122799

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr18:29122799

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr18:29122799

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr18:29122799

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr18:29122799

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr18:29122799

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr18:29122799

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr18:29122799

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr18:29122799

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr18:29122799

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr18:29122799

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr18:29122799

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr18:27376797

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr18:27376797

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr18:27376797

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr18:27376797

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr18:27376797

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr18:27376797

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr18:27376797

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr18:27376797

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr18:27376797

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr18:27376797

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr18:27376797

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr18:27376797

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr18:27376797

 

Other external references
 

    dbSNP
  • rs2278792
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DSG2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSG2
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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