Transcript #00000108

Transcript name transcript variant 2
Gene name DNM1L (dynamin 1-like)
Chromosome 12
Transcript - NCBI ID NM_012063.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036193.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.106A>G p.(Ser36Gly) - - - -
./. - - c.251-1533_251-1532insA p.(=) - - - -
./. - - c.305C>T p.(Thr102Met) - - - -
./. - - c.345_346del p.(Glu116Lysfs*6) - - - -
./. - - c.1048G>A p.(Gly350Arg) - - - -
./. - - c.1084G>A p.(Gly362Ser) - - - -
./. - - c.1085G>A p.(Gly362Asp) - - - -
./. - - c.1135G>A p.(Glu379Lys) - - - -
+/+ - 10/18 c.1184C>A p.(Ala395Asp) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.1184C>A p.(Ala395Asp) - - - -
./. - - c.1207C>T p.(Arg403Cys) - - - -
./. - - c.1337G>T p.(Cys446Phe) - - - -
./. - - c.1994A>G p.(Tyr665Cys) - - - -
./. - - c.*21G>C p.(=) - - - -
./. - - c.*22A>T p.(=) - - - -
./. - - c.*271C>G p.(=) - - - -
./. - - c.*393A>C p.(=) - - - -
./. - - c.*600C>T p.(=) - - - -
./. - - c.*744A>T p.(=) - - - -
./. - - c.*1093T>C p.(=) - - - -
./. - - c.*1156G>C p.(=) - - - -
./. - - c.*1213G>T p.(=) - - - -
./. - - c.*1242G>A p.(=) - - - -
./. - - c.*1415T>C p.(=) - - - -
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