Transcript #00000144

Transcript name transcript variant 3
Gene name NF1 (neurofibromin 1)
Chromosome 17
Transcript - NCBI ID NM_001128147.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001121619.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

273 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? - c.-28T>A r.(=) p.(=)
?/? - c.-27C>T r.(=) p.(=)
?/? - c.60+15G>A r.(=) p.(=)
?/? - c.60+15G>A r.(=) p.(=)
?/? - c.60+15G>A r.(=) p.(=)
?/? - c.60+49del r.(=) p.(=)
?/? - c.60+49del r.(=) p.(=)
?/? - c.61-17T>C r.(=) p.(=)
?/? - c.134A>G r.(?) p.(Asn45Ser)
?/? - c.157T>C r.(=) p.(=)
./. - c.168C>T - -
./. - c.168C>T - -
?/? - c.204G>A r.(?) p.(Met68Ile)
-?/-? - c.235T>C r.(=) p.(=)
-?/-? - c.235T>C r.(=) p.(=)
?/? - c.288+28G>A r.(=) p.(=)
?/? - c.288+28G>A r.(=) p.(=)
?/? - c.288+28G>A r.(=) p.(=)
?/? - c.288+42A>G r.(=) p.(=)
?/? - c.289-43G>A r.(=) p.(=)
-/- - c.340C>T r.(=) p.(=)
-/- - c.340C>T r.(=) p.(=)
+/+ - c.381_382del r.(?) p.(Asn128Profs*5)
+/+ - c.381_382del r.(?) p.(Asn128Profs*5)
?/? - c.466C>T r.(?) p.(Arg156Cys)
+/+ - c.484C>T r.(?) p.(Gln162*)
-/- - c.528T>A r.(?) p.(Asp176Glu)
?/? - c.584A>G r.(?) p.(Lys195Arg)
?/? - c.584A>G r.(?) p.(Lys195Arg)
?/? - c.584A>G r.(?) p.(Lys195Arg)
?/? - c.584A>G r.(?) p.(Lys195Arg)
?/? - c.584A>G r.(?) p.(Lys195Arg)
?/? - c.586+51A>G r.(=) p.(=)
?/? - c.587-20A>T r.(=) p.(=)
?/? - c.587-20A>T r.(=) p.(=)
?/? - c.587-11G>T r.(=) p.(=)
?/? - c.654+15C>T r.(=) p.(=)
?/? - c.654+28A>G r.(=) p.(=)
?/? - c.654+28A>G r.(=) p.(=)
?/? - c.655-37A>C r.(=) p.(=)
?/? - c.655-37A>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-29T>C r.(=) p.(=)
?/? - c.655-23G>T r.(=) p.(=)
-?/-? - c.696A>G r.(=) p.(=)
-?/-? - c.696A>G r.(=) p.(=)
-?/-? - c.696A>G r.(=) p.(=)
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
./. - c.702G>A - -
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