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17 variant records found | [show instead phene records] |
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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.
| 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 002164-9925 | goat | Coat colour, white spotting, EDNRA-related | EDNRA | repeat variation | no | "a 1Mb 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 000483-9925 | goat | Polled intersex syndrome | ERG | PIS | complex rearrangement | yes | 1 | "a deletion with a total length of 10 159 bp and an inversely inserted approximately 480 kb‐sized duplicated segment of a region located approximately 21 Mb further downstream on chromosome 1 containing two genes, KCNJ15 and ERG" (Simon et al., 2020) | 2020 | 32060960 | |||||||
| 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 | Resistance to scrapie | PRNP | missense | yes | p.G127S | 2011 | 22040234 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | yes | p.H154R | 2009 | 19218225 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | yes | p.I142M | 1996 | 8922485 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | no | p.N146D | 2007 | 16314132 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | no | p.N146S | 2007 | 16314132 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | yes | p.Q211R | 2009 | 19218225 | |||||||||
| OMIA 000944-9925 | goat | Resistance to scrapie | PRNP | missense | yes | p.Q222K | 2006 | 16603543 | |||||||||
| OMIA 000944-9925 | goat | Norwegian Dairy Goat | Complete resistance to scrapie | PRNP | Ter | nonsense (stop-gain) | no | c.???G>T | p.(Gly32*) | 2012 | 23249298 | ||||||
| OMIA 000424-9925 | goat | Dutch Landrace | Goitre, familial | TG | nonsense (stop-gain) | yes | c.945C>G | p.Y296* | 1993 | 8380383 | |||||||
| OMIA 001249-9925 | goat | Brown | TYRP1 | missense | no | c.1487G>A | p.Gly496Asp | 2015 | 25392961 |
| Overall Statistics | |
|---|---|
| Total number of variants | 17 |
| Variants with genomic location | 0 (0.0% ) |
| Variants in a variant database, i.e. with rs ID | 0 (0.0%) |
| Variant Type | Count | Percent |
|---|---|---|
| complex rearrangement | 1 | 5.9% |
| deletion, small (<=20) | 1 | 5.9% |
| insertion, gross (>20) | 1 | 5.9% |
| missense | 9 | 52.9% |
| nonsense (stop-gain) | 4 | 23.5% |
| repeat variation | 1 | 5.9% |
| Year First Reported | Count | Percent |
|---|---|---|
| 1993 | 1 | 5.9% |
| 1994 | 1 | 5.9% |
| 1995 | 1 | 5.9% |
| 1996 | 3 | 17.6% |
| 1997 | 0 | 0.0% |
| 1998 | 0 | 0.0% |
| 1999 | 0 | 0.0% |
| 2000 | 0 | 0.0% |
| 2001 | 1 | 5.9% |
| 2002 | 0 | 0.0% |
| 2003 | 0 | 0.0% |
| 2004 | 0 | 0.0% |
| 2005 | 0 | 0.0% |
| 2006 | 1 | 5.9% |
| 2007 | 2 | 11.8% |
| 2008 | 0 | 0.0% |
| 2009 | 2 | 11.8% |
| 2010 | 0 | 0.0% |
| 2011 | 1 | 5.9% |
| 2012 | 1 | 5.9% |
| 2013 | 0 | 0.0% |
| 2014 | 0 | 0.0% |
| 2015 | 1 | 5.9% |
| 2016 | 1 | 5.9% |
| 2017 | 0 | 0.0% |
| 2018 | 0 | 0.0% |
| 2019 | 0 | 0.0% |
| 2020 | 1 | 5.9% |