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

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Curation:

Currentness:

(See the latest version)

GATSL1 N17K

(GATSL1 Asn17Lys)

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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

None available.

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2523307
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Web search results (1 hit -- see all)

GATSL1 Gene - GeneCards | GATL1 Protein | GATL1 Antibody
GATSL1 Gene in genomic location: bands according to Ensembl, ... Browse Tocris compounds for GATSL1. Transcripts. for GATSL1 gene (GenBank/EMBL/DDBJ ...
www.genecards.org/cgi-bin/carddisp.pl?gene=GATSL1

Other in silico analyses

NBLOSUM100 score = 1
GET-Evidence autoscore = 2

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
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_C05 from PGP sample 42408046 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_F02 from PGP sample 40767107 view
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_D05 from PGP sample 1205491 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_G03 from PGP sample 92527586 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 GS01175-DNA_B01 from PGP sample 86206034 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_G02 from PGP sample 67180598 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_F02 from PGP sample 70008981 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_C02 from PGP sample 10366372 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B02 from PGP sample 94378523 view
Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_A07 from PGP sample 96240009 view
Jun 22 2011 Genome Importing Robot removed !Gubi view
Feb 27 2010 Genome Importing Robot added !Gubi view
Feb 27 2010 Genome Importing Robot added variant view

GATSL1 N17K - GET-Evidence