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14 variant records found | [show instead phene records] |
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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 | 16603543 | |||||||||
| 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% |