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4 variant records found

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OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000439-10036 golden hamster Hair, long Fgf5 deletion, small (<=20) no c.546delG p.Arg184GlyfsX6 2015 26481120
OMIA 001401-10036 golden hamster Waardenburg syndrome, type 2A MITF splicing yes A T>A base substitution in intron 6 of MITF leads to the skipping of exon 7 and a premature termination. 2003 12871913
OMIA 000162-10036 golden hamster Cardiomyopathy, dilated SGCD deletion, gross (>20) yes genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted 1997 9391120
OMIA 000515-10036 golden hamster Cardiomyopathy, hypertrophic SGCD deletion, gross (>20) yes a large deletion in the delta-SG gene 1997 9097966
Overall Statistics
Total number of variants 4
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, gross (>20) 2 50.0%
deletion, small (<=20) 1 25.0%
splicing 1 25.0%
Year First Reported Count Percent
1997 2 50.0%
1998 0 0.0%
1999 0 0.0%
2000 0 0.0%
2001 0 0.0%
2002 0 0.0%
2003 1 25.0%
2004 0 0.0%
2005 0 0.0%
2006 0 0.0%
2007 0 0.0%
2008 0 0.0%
2009 0 0.0%
2010 0 0.0%
2011 0 0.0%
2012 0 0.0%
2013 0 0.0%
2014 0 0.0%
2015 1 25.0%