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

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Curation:

Currentness:

(See the latest version)

SRMS V457L

(SRMS Val457Leu)

You are viewing an old version of this page that was saved on June 23, 2011 at 12:16am by Genome Importing Robot.

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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 @ chr20:62172269: 16.9% (1821/10754) in EVS
A @ chr20:61642712: 18.5% (23/124) in GET-Evidence
Frequency shown in summary reports: 16.9% (1821/10754)

Publications

Genomes

Deleted in this revision:

Other external references

dbSNP

rs310654
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PolyPhen-2

Score: 0 (benign)

Other in silico analyses

NBLOSUM100 score = 0
GET-Evidence autoscore = 0

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_D02 from PGP sample 27316983 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01175-DNA_D01 from PGP sample 31286272 view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 23 2011 Genome Importing Robot removed [NA18517] view
Jun 23 2011 Genome Importing Robot removed [NA18507] view
Jun 23 2011 Genome Importing Robot removed [NA12156] view
Jun 22 2011 Genome Importing Robot removed [NA19240] view
Jun 22 2011 Genome Importing Robot removed G/aq'o view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 22 2011 Genome Importing Robot removed !Ai 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-GS19240-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19239-1100-36-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-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18517-1100-36-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-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B02_200_37 view
Dec 5 2010 Genome Importing Robot added CGI sample GS00253-DNA_B01_200_37 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 27 2010 Genome Importing Robot added G/aq'o view
Feb 27 2010 Genome Importing Robot added !Ai view
Feb 26 2010 Genome Importing Robot added [NA12156] view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added variant view

SRMS V457L - GET-Evidence