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Link to this search: https://omia.org/results/?gb_species_id=10141&result_type=variant&search_type=advanced
7 variant records found |
[show instead phene records] |
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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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
domestic guinea pig
|
Recessive black |
Asip |
deletion, small (<=20) |
Naturally occurring variant |
Not currently ISAG evaluated |
c.181_184delTTCA |
MH026115: c.181_184delTTCA; the deletion leads to a truncated protein of 77 amino acids due to the premature stop codon. |
2019
|
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domestic guinea pig
|
Cataract |
Cryz |
splicing |
Naturally occurring variant |
Not currently ISAG evaluated |
"a 102-bp deletion towards the 3' end of the coding region. This deletion does not interfere with the reading frame but results in a protein 34 amino acids shorter." (Rodriguez et al., 1992) |
1992
|
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domestic guinea pig
|
Long hair |
Fgf5 |
nonsense (stop-gain) |
Naturally occurring variant |
Not currently ISAG evaluated |
c.403C>T |
p.(R135*) |
"The data were submitted to the European Variation Archive (accession no. PRJEB24997)" |
2018
|
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domestic guinea pig
|
Mannosidosis, alpha |
Man2b1 |
missense |
Naturally occurring variant |
Not currently ISAG evaluated |
c.679C>T |
p.(R227W) |
2002
|
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domestic guinea pig
|
Brown coat colour |
MC1R |
e (MC1R*4) |
deletion, gross (>20) |
Naturally occurring variant |
Not currently ISAG evaluated |
Vidal (2018): "a deletion of 2760 bp, including the entire MC1R coding region" |
2018
|
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domestic guinea pig
|
Brown coat colour |
MC1R |
e (MC1R*2) |
missense |
Naturally occurring variant |
Not currently ISAG evaluated |
c.749T>C |
p.(L250Q) |
2018
|
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domestic guinea pig
|
Coat colour, albinism |
Tyr |
missense |
Naturally occurring variant |
Not currently ISAG evaluated |
c.710A>G |
p.(D237G) |
2018
|
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee