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

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Curation:

Currentness:

(See the latest version)

DMD K2366Q

(DMD Lys2366Gln)

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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.)

unknown

Allele frequency

G @ chrX:31893307: 20.1% (1764/8758) in EVS
G @ chrX:31803227: 15.2% (14/92) in GET-Evidence
Frequency shown in summary reports: 20.1% (1764/8758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs1800275
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the DMD gene
DMD-Associated Dilated Cardiomyopathy
DMD-Related Dilated Cardiomyopathy
Dystrophinopathies
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DMD

PolyPhen-2

Score: 0.875 (probably damaging)

Other in silico analyses

NBLOSUM100 score = –2
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_C07 from PGP sample 74521372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_B05 from PGP sample 86486261 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_H01 from PGP sample 94797469 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D03 from PGP sample 27486199 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_B05 from PGP sample 83494370 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_H06 from PGP sample 91708424 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F06 from PGP sample 64191565 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Mar 29 2011 Genome Importing Robot added var-GS19735-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19649-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18940-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS12004-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
Mar 29 2011 Genome Importing Robot added variant view

DMD K2366Q - GET-Evidence