Transcript #00006794 (NM_001080463.1, DYNC2H1 gene)

Transcript name transcript variant 2
Gene name DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1)
Chromosome 11
Transcript - NCBI ID NM_001080463.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073932.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

578 entries on 6 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-97C>T r.(?) p.(=)
+/. _1_90_ c.-144_*610{0} r.0? p.0?
-/. - c.21C>T r.(?) p.(Asp7=)
-/. - c.21C>T r.(?) p.(Asp7=)
+/. 1 c.193A>C r.(?) p.(Thr65Pro)
+/. 1 c.195G>T r.(=) p.(=)
-/. - c.195+7T>C r.(=) p.(=)
-?/. - c.195+7T>C r.(=) p.(=)
+/. 2 c.327C>G r.(?) p.(Tyr109*)
+/. - c.327C>G r.(?) p.(Tyr109Ter)
+/. 2 c.337C>T r.(?) p.(Arg113Trp)
-?/. - c.371A>G r.(?) p.(Gln124Arg)
?/. - c.392A>G r.(?) p.(Asp131Gly)
+?/. - c.448C>T r.(?) p.(Arg150Ter)
-?/. - c.456A>G r.(?) p.(Ser152=)
+?/. - c.503-9C>G r.spl p.?
+/. - c.536G>A r.(?) p.(Trp179Ter)
?/. - c.553C>G r.(?) p.(Arg185Gly)
-?/. - c.578A>G r.(?) p.(Glu193Gly)
-?/. - c.621+9T>C r.(=) p.(=)
+/. 5 c.625T>A r.(?) p.(Phe209Ile)
+/. 5 c.625T>A r.(?) p.(Phe209Ile)
+/. 5 c.625T>A r.(?) p.(Phe209Ile)
+/. 5 c.625T>A r.(?) p.(Phe209Ile)
-/. - c.645A>G r.(?) p.(Leu215=)
-/. - c.645A>G r.(?) p.(Leu215=)
+/. - c.729T>A r.(?) p.(Tyr243Ter)
+?/. 5 c.740G>A r.(?) p.(Arg247Gln)
+/. 5i c.767-2A>G r.spl? p.?
?/. - c.872G>T r.(?) p.(Cys291Phe)
-/. - c.911A>T r.(?) p.(Gln304Leu)
-/. - c.911A>T r.(?) p.(Gln304Leu)
?/. - c.913G>A r.(?) p.(Val305Met)
+?/. - c.960del r.(?) p.(Pro321Glnfs*48)
+/. 6 c.988C>T r.(?) p.(Arg330Cys)
+/. 6 c.988C>T r.(?) p.(Arg330Cys)
+/. 6 c.988C>T r.(?) p.(Arg330Cys)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-/. - c.1021C>T r.(?) p.(His341Tyr)
-?/. - c.1031T>A r.(?) p.(Phe344Tyr)
+/. 7 c.1078C>T r.(?) p.(Arg360*)
?/. - c.1143G>T r.(?) p.(Trp381Cys)
+?/. - c.1151C>T r.(?) p.(Ala384Val)
+/. - c.1151C>T r.(?) p.(Ala384Val)
+/. - c.1151C>T r.(?) p.(Ala384Val)
+/. - c.1151C>T r.(?) p.(Ala384Val)
+?/. 8 c.1151C>T r.(?) p.(Ala384Val)
?/. - c.1157C>T r.(?) p.(Ser386Phe)
-/. - c.1233A>G r.(?) p.(Gln411=)
-?/. - c.1233A>G r.(?) p.(Gln411=)
-?/. - c.1249-6T>C r.(=) p.(=)
+/. - c.1255C>T r.(?) p.(Gln419*)
-?/. - c.1263C>A r.(?) p.(Phe421Leu)
-?/. - c.1263C>A r.(?) p.(Phe421Leu)
+?/. - c.1288C>T r.(?) p.(Arg430Cys)
+?/. - c.1288C>T r.(?) p.(Arg430Cys)
+/. 9 c.1289G>A r.(?) p.(Arg430His)
+?/. - c.1306G>T r.(?) p.(Glu436*)
+/. 9 c.1306G>T r.(?) p.(Glu436*)
+/. 9i c.1360+2del r.spl? p.?
-/. - c.1367G>A r.(?) p.(Arg456Gln)
?/. - c.1468C>T r.(?) p.(Arg490Cys)
?/. - c.1469G>A r.(?) p.(Arg490His)
+/. 11 c.1657_1660del r.(?) p.(Leu553Valfs*18)
+/. 12 c.1759C>T r.(?) p.(Arg587Cys)
+/. 12 c.1759C>T r.(?) p.(Arg587Cys)
?/. - c.1774C>T r.(?) p.(Leu592Phe)
?/. - c.1774C>T r.(?) p.(Leu592Phe)
?/. - c.1774C>T r.(?) p.(Leu592Phe)
?/. - c.1829T>G r.(?) p.(Phe610Cys)
?/. - c.1843A>G r.(?) p.(Ile615Val)
+/. 12 c.1847_1852del r.(?) p.(Ile616_Leu617del)
+?/. - c.1847_1852del r.(?) p.(Ile616_Leu617del)
+/. 13 c.1949T>A r.(?) p.(Ile650Asn)
+/. 13 c.1953G>A r.(=) p.(=)
+?/. 14 c.2040dup r.(?) p.(Ala681Cysfs*3)
+/. 16 c.2225T>G r.(?) p.(Met742Arg)
?/. - c.2289G>A r.(?) p.(Met763Ile)
+/. 16 c.2341T>G r.(?) p.(Tyr781Asp)
+/. 16 c.2341T>G r.(?) p.(Tyr781Asp)
+?/. - c.2345+1G>T r.spl? p.?
-?/. - c.2439T>C r.(?) p.(Phe813=)
-/. - c.2454G>A r.(?) p.(Glu818=)
?/. - c.2507T>G r.(?) p.(Phe836Cys)
-?/. - c.2512A>G r.(?) p.(Thr838Ala)
+/. - c.2549T>A r.(?) p.(Leu850Ter)
-?/. - c.2550G>A r.(?) p.(Leu850=)
?/. - c.2581A>G r.(?) p.(Ile861Val)
+/. - c.2593C>T r.(?) p.(Gln865Ter)
?/. - c.2612T>C r.(?) p.(Leu871Pro)
-?/. - c.2686G>T r.(?) p.(Val896Leu)
-?/. - c.2797T>A r.(?) p.(Ser933Thr)
+?/. - c.2818+1G>C r.spl? p.?
-/. - c.2818+13T>C r.(=) p.(=)
-/. - c.2818+13T>C r.(=) p.(=)
-/. - c.2818+13T>G r.(=) p.(=)
+/. 19i c.2819-14A>G r.spl p.(=)
+?/. - c.2819-14A>G r.(=) p.(=)
-?/. - c.2860G>A r.(?) p.(Glu954Lys)
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