OMIA 001471-9615 : Neonatal encephalopathy with seizures in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ATF2||activating transcription factor 2||Canis lupus familiaris||36||NC_051840.1 (19255411..19170174)||ATF2||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Standard Poodle||Neonatal encephalopathy with seizures||ATF2||missense||CanFam3.1||36||g.19078954T>G||c.152T>G||p.M51R||2008||18074159||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2008||Chen, X., Johnson, GS., Schnabel, RD., Taylor, JF., Johnson, GC., Parker, HG., Patterson, EE., Katz, ML., Awano, T., Khan, S., O'Brien, DP. :|
|A neonatal encephalopathy with seizures in standard poodle dogs with a missense mutation in the canine ortholog of ATF2. Neurogenetics 9:41-9, 2008. Pubmed reference: 18074159. DOI: 10.1007/s10048-007-0112-2.|
- Created by Frank Nicholas on 12 Jul 2009
- Changed by Vicki Meyers-Wallen on 18 Sep 2011
- Changed by Frank Nicholas on 28 Sep 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Tosso Leeb on 29 May 2013