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11 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 001602-93934 Japanese quail Feather colour, recessive black ASIP deletion, small (<=20) no "A deletion of 8 bases was found in the ASIP gene" 2008 18287406
OMIA 001602-93934 Japanese quail Feather colour, lethal yellow ASIP deletion, gross (>20) yes "a >90-kb deletion upstream of ASIP" 2008 18287407
OMIA 000375-93934 Japanese quail Feather colour, panda/dotted white EDNRB2 missense no c.995G>A p.R332H 2007 17313575
OMIA 001435-93934 Japanese quail Feather colour, extended brown MC1R missense no c.?G>A p.E92K 2006 16734695
OMIA 000915-93934 Japanese quail Feather colour, silver MITF deletion, small (<=20) no "a two-base deletion resulting in premature termination of the polypeptide in the region following the zipper region" = 2 bp deletion in exon 11 1998 9576828
OMIA 000755-93934 Japanese quail Osteopetrosis MITF deletion, small (<=20) yes same MITF variant as for silver, as reported in 1998 2001 11169846
OMIA 001445-93934 Japanese quail Feather colour, lavender MLPH deletion, gross (>20) no a large deletion in the region of the quail MLPH gene 2002 12011184
OMIA 000545-93934 Japanese quail Quv (quiver) strain Hypotrophic axonopathy NEFL nonsense (stop-gain) yes c.352C>T p.Q114* 1993 8468353
OMIA 000370-93934 Japanese quail Feather colour, albinism, sex-linked, imperfect SLC45A2 splicing yes a splice-site mutation in the SLC45A2 gene: "a G → T transversion at the splice acceptor site just preceding exon 4" 2007 17151254
OMIA 000370-93934 Japanese quail Feather colour, cinnamon SLC45A2 missense no c.287C>A p.A72D 2007 17151254
OMIA 001322-93934 Japanese quail Feather colour, roux TYRP1 missense no p.F282S 2007 18028514
Overall Statistics
Total number of variants 11
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, gross (>20) 2 18.2%
deletion, small (<=20) 3 27.3%
missense 4 36.4%
nonsense (stop-gain) 1 9.1%
splicing 1 9.1%
Year First Reported Count Percent
1993 1 9.1%
1994 0 0.0%
1995 0 0.0%
1996 0 0.0%
1997 0 0.0%
1998 1 9.1%
1999 0 0.0%
2000 0 0.0%
2001 1 9.1%
2002 1 9.1%
2003 0 0.0%
2004 0 0.0%
2005 0 0.0%
2006 1 9.1%
2007 4 36.4%
2008 2 18.2%