Transcript #00000103

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 -
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.260_261insA p.(Trp88Metfs*9) - - - -
./. - - c.344C>T p.(Thr115Met) - - - -
./. - - c.384_385del p.(Glu129Lysfs*6) - - - -
./. - - c.1087G>A p.(Gly363Arg) - - - -
./. - - c.1123G>A p.(Gly375Ser) - - - -
./. - - c.1124G>A p.(Gly375Asp) - - - -
./. - - c.1174G>A p.(Glu392Lys) - - - -
+/+ - 11/20 c.1223C>A p.(Ala408Asp) probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.1223C>A p.(Ala408Asp) - - - -
./. - - c.1246C>T p.(Arg416Cys) - - - -
./. - - c.1376G>T p.(Cys459Phe) - - - -
./. - - c.2111A>G p.(Tyr704Cys) - - - -
./. - - 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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