Search Results
Advanced search
Link to this search: https://omia.org/results/?gb_species_id=9915&result_type=variant&search_type=advanced
6 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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | OMIA Phene-Species ID(s) | Species Name | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Deleterious? | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1060 | OMIA:001271-9915 | indicine cattle (zebu) | Miniature Zebu, United Kingdom of Great Britain and Northern Ireland (Cattle) | Bulldog calf | ACAN | insertion, small (<=20) | Naturally occurring variant | yes | ARS-UCD1.2 | 21 | g.20428539_20428540insC | c.5688_5689insC | p.(V1897fs*9) | cDNA position based on transcript NM_173981.2 | 2018 | 30305023 | |||
1321 | OMIA:002200-9915 | indicine cattle (zebu) | Brahman (Cattle) Nellore, India (Sheep) | Darkness of hair coat | ASIP | delins, gross (>20) | Naturally occurring variant | unknown | 13 | 1155-bp deletion followed by an insertion of a transposable element of more than 150 bp that may impact the recruitment of ASIP non-coding exons (Trigo et al.2021) | 2021 | 33910501 | |||||||
490 | OMIA:000685-9915 | indicine cattle (zebu) | Brahman (Cattle) | Myasthenic syndrome, congenital, CHRNE-related | CHRNE | 470del20 | deletion, small (<=20) | Naturally occurring variant | yes | ARS-UCD1.2 | 19 | g.26485848_26485867del | c.470_489del | Kraner et al. (2002): "a loss of 20 bp within the coding sequence of exon 5 (Fig. 2), between nucleotide 469 and 490 (nucleotide numbering referring to the cDNA sequence published under accession number X02597". These authors (and subsequent authors) call this variant "470del20". The current (2020) HGVS nomenclature is c.470_489del 200922: g. information move here (g.27119615) until standardised | rs5334475050 | 2002 | 12481987 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. | |
190 | OMIA:001473-9915 | indicine cattle (zebu) | Brahman (Cattle) | Dwarfism, growth-hormone deficiency | GH1 | missense | Naturally occurring variant | yes | c.641C>T | p.(T200M) | Bos indicus cDNA position based on AF034386, protein position based on AAB92549 | 2009 | 19524387 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | |||||
1350 | OMIA:001199-9915 | indicine cattle (zebu) | Guzerat (Cattle) | Red | MC1R | deletion, small (<=20) | Naturally occurring variant | no | c.311delT | p.(G104Vfs*) | 2021 | 34555208 | |||||||
1351 | OMIA:001199-9915 | indicine cattle (zebu) | Sahiwal (Cattle) | Red | MC1R | missense | Naturally occurring variant | no | c.844C>A | p.(T281 N) | 2021 | 33512595 |
Overall Statistics | |
---|---|
Total number of variants | 6 |
Variants with genomic location | 2 (33.3% ) |
Variants in a variant database, i.e. with rs ID | 1 (16.7%) |
Variant Type | Count | Percent |
---|---|---|
deletion, small (<=20) | 2 | 33.3% |
delins, gross (>20) | 1 | 16.7% |
insertion, small (<=20) | 1 | 16.7% |
missense | 2 | 33.3% |
Year First Reported | Count | Percent |
---|---|---|
2002 | 1 | 16.7% |
2003 | 0 | 0.0% |
2004 | 0 | 0.0% |
2005 | 0 | 0.0% |
2006 | 0 | 0.0% |
2007 | 0 | 0.0% |
2008 | 0 | 0.0% |
2009 | 1 | 16.7% |
2010 | 0 | 0.0% |
2011 | 0 | 0.0% |
2012 | 0 | 0.0% |
2013 | 0 | 0.0% |
2014 | 0 | 0.0% |
2015 | 0 | 0.0% |
2016 | 0 | 0.0% |
2017 | 0 | 0.0% |
2018 | 1 | 16.7% |
2019 | 0 | 0.0% |
2020 | 0 | 0.0% |
2021 | 3 | 50.0% |