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6 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 001089-9544 Rhesus monkey Blood group system ABO ABO missense no 266; 268 1998 9583803
OMIA 000578-9544 Rhesus monkey Krabbe disease GALC deletion, small (<=20) yes c.387delAC 1997 9192853
OMIA 001348-9544 Rhesus monkey Atrichia with papular lesions HR nonsense (stop-gain) yes MMUL_1 8 g.22046679C>T c.1831C>T p.R611* 2002 11831740 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 nonsense (stop-gain) yes 2 Bray et al. (2018): "a de novo stop codon in the coding region of MLH1. This de novo stop codon occurs in exon 11 out of 19 in the MLH1 gene, and thus would produce a dramatically truncated and possibly non-functional protein" 2018 30108684
OMIA 002145-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MLH1-related MLH1 deletion, small (<=20) yes 2 g.99,561,829–99,561,830 Brammer et al. (2018): "a heterozygous deletion in the putative promoter region of the MLH1 gene (rheMac2: 2:99,561,829– 99,561,830; hg19: ∼3:37,034,780; c.−258_259)" 2018 29490919
OMIA 002160-9544 Rhesus monkey Colorectal cancer, hereditary nonpolyposis, MSH6-related MSH6 missense unknown Dray et al. (2018): "a heterozygous missense mutation in MSH6 that has a CADD score of 22.8, indicating that it would be among the <1% most deleterious mutations possible in the human genome (if that variant occurred in the human MSH6 gene" 2018 30108684
Overall Statistics
Total number of variants 6
Variants with genomic location 1 (16.7% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, small (<=20) 2 33.3%
missense 2 33.3%
nonsense (stop-gain) 2 33.3%
Year First Reported Count Percent
1997 1 16.7%
1998 1 16.7%
1999 0 0.0%
2000 0 0.0%
2001 0 0.0%
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 0 0.0%
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 3 50.0%