Unique variants in the AARSD1 gene

Information The variants shown are described using the NM_001261434.1 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

Owner     
./. 27 - c.-4806C>T -4806 r.(=) p.(=) - utr-5 - g.41121263G>A - PTGES3L-AARSD1_000012 - - LOVD
./. 31 - c.-4754del -4754 r.(=) p.(=) - utr-5 - g.41121211del - AARSD1_000001 - - LOVD
./. 31 - c.-4754_-4753del -4754 r.(=) p.(=) - utr-5 - g.41121210_41121211del - PTGES3L-AARSD1_000008 - - LOVD
./. 2 - c.-4738T>A -4738 r.(=) p.(=) - utr-5 - g.41121195A>T - AARSD1_000006 - - LOVD
./. 1 - c.-4737G>C -4737 r.(=) p.(=) - utr-5 - g.41121194C>G - AARSD1_000005 - - LOVD
./. 31 - c.-108C>A -108 r.(=) p.(=) - utr-5 - g.41116565G>T - PTGES3L-AARSD1_000005 - - LOVD
./. 31 - c.40-43_40-38del 40 r.(=) p.(=) - intron 38 g.41116292_41116297del - PTGES3L-AARSD1_000004 - - LOVD
./. 30 - c.60C>T 60 r.(?) p.(=) - coding-synonymous - g.41116234G>A - PTGES3L-AARSD1_000003 - - LOVD
./. 1 - c.124C>T 124 r.(?) p.(Gln42Ter) - stop-gained - g.41116170G>A - AARSD1_000004 - - LOVD
./. 1 - c.331+35A>T 331 r.(=) p.(=) - intron 35 g.41113174T>A - AARSD1_000003 - - LOVD
./. 3 - c.795-44C>T 795 r.(=) p.(=) - intron 44 g.41107285G>A - AARSD1_000002 - - LOVD
./. 31 - c.1009-27A>G 1009 r.(=) p.(=) - intron 27 g.41103938T>C - PTGES3L-AARSD1_000001 - - LOVD
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