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

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Curation:

Currentness:

(See the latest version)

ATF7IP2 A543T

(ATF7IP2 Ala543Thr)

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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

A @ chr16:10574813: 7.4% (796/10758) in EVS
A @ chr16:10482313: 10.9% (14/128) in GET-Evidence
Frequency shown in summary reports: 7.4% (796/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs9931441
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0.28 (possibly damaging)

Other in silico analyses

NBLOSUM100 score = 1
GET-Evidence autoscore = 0

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Mar 5 2012 Genome Importing Robot added CGI sample GS000005532 view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 22 2011 Genome Importing Robot removed D#kgao view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed !Ai view
Jun 22 2011 Genome Importing Robot added PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19703-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19700-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19648-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19238-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
May 19 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added D#kgao view
Feb 27 2010 Genome Importing Robot added !Ai view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added variant view

ATF7IP2 A543T - GET-Evidence