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14 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 000698-9925 goat Myotonia CLCN1 missense yes G>C 1996 8855341
OMIA 000852-9925 goat Casein, alpha-S1, reduced concentration CSN1S1 insertion, gross (>20) yes "a 457-bp insertion within exon 19 (last untranslated exon). This insert is a truncated long interspersed repeated element (LINE) containing part of the ORF-2, the 3' UTR and the poly(A) tail of the original retroposon." 1994 7926797
OMIA 001623-9925 goat Casein, alpha-S2, absence CSN1S2 nonsense (stop-gain) yes c.763G>A p.T110* 2001 11419340
OMIA 000214-9925 goat Coat colour, white spotting EDNRA repeat variation no "a 1 Mb copy number variant (CNV) harboring 5 genes including EDNRA. The analysis of 358 Boer goats revealed 3 alleles with one, two, and three copies of this CNV. The copy number is correlated with the degree of white spotting in goats" 2016 27329507
OMIA 000665-9925 goat Mucopolysaccharidosis IIID GNS nonsense (stop-gain) yes c.322C>T p.R102* 1995 7623459
OMIA 000626-9925 goat Mannosidosis, beta MANBA deletion, small (<=20) yes c.1398delG 1996 8921369
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.G127S 2011 22040234
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.H154R 2009 19218225
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.I142M 1996 8922485
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense no p.N146D 2007 16314132
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense no p.N146S 2007 16314132
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.Q211R 2009 19218225
OMIA 000944-9925 goat Spongiform encephalopathy (scrapie) PRNP missense yes p.Q222K 2006 16528054
OMIA 000424-9925 goat Dutch Landrace Goitre, familial TG nonsense (stop-gain) yes c.945C>G p.Y296* 1993 8380383
Overall Statistics
Total number of variants 14
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, small (<=20) 1 7.1%
insertion, gross (>20) 1 7.1%
missense 8 57.1%
nonsense (stop-gain) 3 21.4%
repeat variation 1 7.1%
Year First Reported Count Percent
1993 1 7.1%
1994 1 7.1%
1995 1 7.1%
1996 3 21.4%
1997 0 0.0%
1998 0 0.0%
1999 0 0.0%
2000 0 0.0%
2001 1 7.1%
2002 0 0.0%
2003 0 0.0%
2004 0 0.0%
2005 0 0.0%
2006 1 7.1%
2007 2 14.3%
2008 0 0.0%
2009 2 14.3%
2010 0 0.0%
2011 1 7.1%
2012 0 0.0%
2013 0 0.0%
2014 0 0.0%
2015 0 0.0%
2016 1 7.1%