All transcript variants in gene NF1

Information The variants shown are described using the transcript reference sequence.

719 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.-28T>A r.(=) p.(=) g.29422300T>A - NF1_000299 rs756130588 - Germline - - - - Despoina Kalfakakou
?/? - c.-27C>T r.(=) p.(=) g.29422301C>T - NF1_000300 rs528844929 - Germline - - - - Despoina Kalfakakou
?/? - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - Germline - - - - Despoina Kalfakakou
?/? - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - Germline - - - - Despoina Kalfakakou
?/? - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - Germline - - - - Despoina Kalfakakou
?/? - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - Germline - - - - Despoina Kalfakakou
?/? - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - Germline - - - - Despoina Kalfakakou
?/? - c.61-17T>C r.(=) p.(=) g.29482984T>C - NF1_000276 - - Germline - - - - Despoina Kalfakakou
?/? - c.134A>G r.(?) p.(Asn45Ser) g.29483074A>G - NF1_000215 rs753189381 - Germline - - - - Despoina Kalfakakou
?/? - c.157T>C r.(=) p.(=) g.29483097T>C - NF1_000286 - - Germline - - - - Despoina Kalfakakou
./. - c.168C>T - - g.29483108C>T - NF1_000328 rs17881168 - - - - - - Stevi Xera
./. - c.168C>T - - g.29483108C>T - NF1_000328 rs17881168 - - - - - - Stevi Xera
?/? - c.204G>A r.(?) p.(Met68Ile) g.29483144G>A - NF1_000153 rs1441153485 - Germline - - - - Despoina Kalfakakou
-?/-? - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 rs764855221 - Germline - - - - Despoina Kalfakakou
-?/-? - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 rs764855221 - Germline - - - - Despoina Kalfakakou
?/? - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - Germline - - - - Despoina Kalfakakou
?/? - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - Germline - - - - Despoina Kalfakakou
?/? - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - Germline - - - - Despoina Kalfakakou
?/? - c.288+42A>G r.(=) p.(=) g.29486153A>G - NF1_000022 - - Germline - - - - Despoina Kalfakakou
?/? - c.289-43G>A r.(=) p.(=) g.29490161G>A - NF1_000212 - - Germline - - - - Despoina Kalfakakou
-/- - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - Germline - - - - Despoina Kalfakakou
-/- - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - Germline - - - - Despoina Kalfakakou
+/+ - c.381_382del r.(?) p.(Asn128Profs*5) g.29490296_29490297del - NF1_000243 - - Germline - - - - Despoina Kalfakakou
+/+ - c.381_382del r.(?) p.(Asn128Profs*5) g.29490296_29490297del - NF1_000243 - - Germline ? - - - Despoina Kalfakakou
?/? - c.466C>T r.(?) p.(Arg156Cys) g.29490381C>T - NF1_000293 rs755890242 - Germline - - - - Despoina Kalfakakou
+/+ - c.484C>T r.(?) p.(Gln162*) g.29496913C>T - NF1_000260 rs1555607073 - Germline - - - - Despoina Kalfakakou
-/- - c.528T>A r.(?) p.(Asp176Glu) g.29496957T>A - NF1_000304 rs112306990 - Germline - - - - Despoina Kalfakakou
?/? - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? - c.586+51A>G r.(=) p.(=) g.29497066A>G - NF1_000202 - - Germline - - - - Despoina Kalfakakou
?/? - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - Germline - - - - Despoina Kalfakakou
?/? - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - Germline - - - - Despoina Kalfakakou
?/? - c.587-11G>T r.(=) p.(=) g.29508429G>T - NF1_000100 - - Germline - - - - Despoina Kalfakakou
?/? - c.654+15C>T r.(=) p.(=) g.29508522C>T - NF1_000161 - - Germline - - - - Despoina Kalfakakou
?/? - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - Germline - - - - Despoina Kalfakakou
?/? - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - Germline - - - - Despoina Kalfakakou
?/? - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - Germline - - - - Despoina Kalfakakou
?/? - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? - c.655-23G>T r.(=) p.(=) g.29508705G>T - NF1_000103 - - Germline - - - - Despoina Kalfakakou
-?/-? - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 rs368691517 - Germline - - - - Despoina Kalfakakou
-?/-? - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 rs368691517 - Germline - - - - Despoina Kalfakakou
-?/-? - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 rs368691517 - Germline - - - - Despoina Kalfakakou
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
./. - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
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