Transcript #00025380 (NM_001278464.1, DNM1L gene)

Transcript name transcript variant 5
Gene name DNM1L (dynamin 1-like)
Chromosome 12
Transcript - NCBI ID NM_001278464.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001265393.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.106A>G r.(?) p.(Ser36Gly)
-?/. - c.251A>G r.(?) p.(Asp84Gly)
+/. - c.261dup r.(?) p.(Trp88Metfs*9)
+/. - c.261dup r.(?) p.(Trp88Metfs*9)
+?/+? - c.344C>T r.(?) p.(Thr115Met)
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6)
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6)
+/. - c.385_386del r.(?) p.(Glu129Lysfs*6)
-?/. - c.496-10_496-7del r.(=) p.(=)
+?/. - c.646G>A r.(?) p.(Val216Ile)
+/. - c.707G>T r.(?) p.(Gly236Val)
-?/. - c.906A>G r.(?) p.(Leu302=)
?/. - c.963A>G r.(?) p.(Ile321Met)
-?/. - c.1005C>T r.(?) p.(Tyr335=)
-?/. - c.1019A>C r.(?) p.(Asp340Ala)
-?/. - c.1032T>C r.(?) p.(Ala344=)
+/. - c.1087G>A r.(?) p.(Gly363Arg)
+/. - c.1087G>A r.(?) p.(Gly363Arg)
-?/. - c.1118+10A>G r.(=) p.(=)
+/. - c.1123G>A r.(?) p.(Gly375Ser)
+/. - c.1123G>A r.(?) p.(Gly375Ser)
+/. - c.1124G>A r.(?) p.(Gly375Asp)
?/. - c.1132A>G r.(?) p.(Arg378Gly)
+/. - c.1148T>G r.(?) p.(Phe383Cys)
+/. - c.1174G>A r.(?) p.(Glu392Lys)
?/. - c.1174G>A r.(?) p.(Glu392Lys)
+/. - c.1223C>A r.(?) p.(Ala408Asp)
+/. - c.1223C>A r.(?) p.(Ala408Asp)
+/. - c.1223C>A r.(?) p.(Ala408Asp)
+/. - c.1223C>A r.(?) p.(Ala408Asp)
+/. - c.1246C>T r.(?) p.(Arg416Cys)
+/. - c.1246C>T r.(?) p.(Arg416Cys)
+/. - c.1246C>T r.(?) p.(Arg416Cys)
+/. - c.1246C>T r.(?) p.(Arg416Cys)
+?/. - c.1246C>T r.(?) p.(Arg416Cys)
-?/. - c.1308T>A r.(?) p.(Arg436=)
+?/. - c.1376G>T r.(?) p.(Cys459Phe)
-/. - c.1574T>C r.(?) p.(Ile525Thr)
?/. - c.1574T>C r.(?) p.(Ile525Thr)
?/. 16i c.1707+1G>A r.spl p.?
-?/. - c.1873A>T r.(?) p.(Ile625Phe)
?/. 17 c.1888C>T r.(?) p.(Pro630Ser)
?/. - c.*6530C>T r.(=) p.(=)
+/. - c.*6531G>A r.(=) p.(=)
-?/. - c.*10525C>T r.(=) p.(=)
+/. - c.*10634_*10637del r.(=) p.(=)
?/. - c.*11810A>C r.(=) p.(=)
?/. - c.*11893C>A r.(=) p.(=)
-?/. - c.*11930T>G r.(=) p.(=)
-/. - c.*12174G>A r.(=) p.(=)
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