Unique variants in gene NF1

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

269 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
?/? 1 - c.-28T>A r.(=) p.(=) g.29422300T>A - NF1_000299 rs756130588 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.-27C>T r.(=) p.(=) g.29422301C>T - NF1_000300 rs528844929 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.61-17T>C r.(=) p.(=) g.29482984T>C - NF1_000276 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.134A>G r.(?) p.(Asn45Ser) g.29483074A>G - NF1_000215 rs753189381 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.157T>C r.(=) p.(=) g.29483097T>C - NF1_000286 - - Germline - - - - Despoina Kalfakakou
./. 2 - c.168C>T - - g.29483108C>T - NF1_000328 rs17881168 - - - - - - Stevi Xera
?/? 1 - c.204G>A r.(?) p.(Met68Ile) g.29483144G>A - NF1_000153 rs1441153485 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 rs764855221 - Germline - - - - Despoina Kalfakakou
?/? 3 - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.288+42A>G r.(=) p.(=) g.29486153A>G - NF1_000022 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.289-43G>A r.(=) p.(=) g.29490161G>A - NF1_000212 - - Germline - - - - Despoina Kalfakakou
-/- 2 - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - Germline - - - - Despoina Kalfakakou
+/+ 2 - c.381_382del r.(?) p.(Asn128Profs*5) g.29490296_29490297del - NF1_000243 - - Germline ? - - - Despoina Kalfakakou
?/? 1 - c.466C>T r.(?) p.(Arg156Cys) g.29490381C>T - NF1_000293 rs755890242 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.484C>T r.(?) p.(Gln162*) g.29496913C>T - NF1_000260 rs1555607073 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.528T>A r.(?) p.(Asp176Glu) g.29496957T>A - NF1_000304 rs112306990 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.586+51A>G r.(=) p.(=) g.29497066A>G - NF1_000202 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.587-11G>T r.(=) p.(=) g.29508429G>T - NF1_000100 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.654+15C>T r.(=) p.(=) g.29508522C>T - NF1_000161 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - Germline - - - - Despoina Kalfakakou
?/? 7 - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 rs182325576 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.655-23G>T r.(=) p.(=) g.29508705G>T - NF1_000103 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 rs368691517 - Germline - - - - Despoina Kalfakakou
./. 68 - c.702G>A - - g.29508775G>A - NF1_000326 rs1801052 - - - - - - Stevi Xera
-?/-? 1 - c.730+10C>A r.(=) p.(=) g.29508813C>A - NF1_000106 rs750468471 - Germline - - - - Despoina Kalfakakou
?/? 8 - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.731-6A>C r.(=) p.(=) g.29509520A>C - NF1_000265 rs369366499 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.889-30_889-26del r.(=) p.(=) g.29527410_29527414del - NF1_000039 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.894A>G r.(=) p.(=) g.29527445A>G - NF1_000240 rs1361812147 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1062+46A>G r.(=) p.(=) g.29527659A>G - NF1_000231 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1186-19T>A r.(=) p.(=) g.29528410T>A - NF1_000111 rs772566923 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1260+37T>A r.(=) p.(=) g.29528540T>A - NF1_000290 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1261-46C>T r.(=) p.(=) g.29533212C>T - NF1_000097 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1296G>A r.(=) p.(=) g.29533293G>A - NF1_000154 rs371599283 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1308G>A r.(=) p.(=) g.29533305G>A - NF1_000210 rs765425127 - Germline - - - - Despoina Kalfakakou
./. 1 - c.1513A>G - - g.29541589A>G - NF1_000359 - - - - - - - Stevi Xera
?/? 2 - c.1527+17G>A r.(=) p.(=) g.29541620G>A - NF1_000211 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1527+32T>G r.(=) p.(=) g.29541635T>G - NF1_000194 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1527+46A>C r.(=) p.(=) g.29541649A>C - NF1_000150 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1527+50G>T r.(=) p.(=) g.29541653G>T - NF1_000151 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1641+41G>A r.(=) p.(=) g.29546177G>A - NF1_000244 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.1765C>T - - g.29550505C>T - NF1_000342 - - - - - - - Stevi Xera
+/+ 1 - c.1797G>A r.(?) p.(Trp599*) g.29550537G>A - NF1_000259 rs1567845906 - Germline - - - - Despoina Kalfakakou
./. 2 - c.1809A>T - - g.29550549A>T - NF1_000343 - - - - - - - Stevi Xera
-?/-? 1 - c.1810T>C r.(=) p.(=) g.29550550T>C - NF1_000203 rs142712751 - Germline - - - - Despoina Kalfakakou
-?/-? 2 - c.1884C>T r.(=) p.(=) g.29552151C>T - NF1_000145 rs555635097 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1900A>G r.(?) p.(Ile634Val) g.29552167A>G - NF1_000274 rs745906742 - Germline - - - - Despoina Kalfakakou
-?/-?, ./. 3 - c.1901T>C r.(?) p.(Ile634Thr) g.29552168T>C - NF1_000318 rs527563505 - Germline - - - - Despoina Kalfakakou, Stevi Xera
?/? 1 - c.1922G>A r.(?) p.(Ser641Asn) g.29552189G>A - NF1_000249 - - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.1976G>A r.(?) p.(Arg659Gln) g.29552243G>A - NF1_000146 rs151138158 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.1994C>T r.(?) p.(Ser665Phe) g.29552261C>T - NF1_000296 rs145891889 - Germline - - - - Despoina Kalfakakou
?/? 5 - c.2001+17C>A r.(=) p.(=) g.29552285C>A - NF1_000014 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2001+44del r.(=) p.(=) g.29552312del - NF1_000226 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2001+45T>C r.(=) p.(=) g.29552313T>C - NF1_000225 - - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2019C>T r.(=) p.(=) g.29553470C>T - NF1_000287 rs146624509 - Germline - - - - Despoina Kalfakakou
-/- 1 - c.2022C>T r.(=) p.(=) g.29553473C>T - NF1_000178 rs2230851 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2033C>T r.(?) p.(Pro678Leu) g.29553484C>T - NF1_000093 rs17881753 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2036T>C r.(?) p.(Ile679Thr) g.29553487T>C - NF1_000094 rs1597712366 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2065G>A r.(?) p.(Val689Met) g.29553516G>A - NF1_000281 rs771784652 - Germline - - - - Despoina Kalfakakou
./. 2 - c.2086T>C - - g.29553537T>C - NF1_000344 - - - - - - - Stevi Xera
./. 3 - c.2156T>C - - g.29553607T>C - NF1_000345 - - - - - - - Stevi Xera
./. 2 - c.2172T>C - - g.29553623T>C - NF1_000346 - - - - - - - Stevi Xera
-?/-?, ./. 2 - c.2181A>G r.(=) p.(=) g.29553632A>G - NF1_000311 rs1203116843 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./. 4 - c.2186A>G - - g.29553637A>G - NF1_000347 - - - - - - - Stevi Xera
./., ?/? 3 - c.2204A>C r.(?) p.(Tyr735Ser) g.29553655A>C - NF1_000179 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 6 - c.2239A>G r.(?) p.(Met747Val) g.29553690A>G - NF1_000131 rs1471232737 - Germline - - - - Despoina Kalfakakou, Stevi Xera
-?/-? 1 - c.2252-34T>C r.(=) p.(=) g.29554202T>C - NF1_000254 rs200937398 - Germline - - - - Despoina Kalfakakou
-/- 13 - c.2252-31A>T r.(=) p.(=) g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou
./., ?/? 4 - c.2255G>C r.(?) p.(Arg752Thr) g.29554239G>C - NF1_000096 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 14 - c.2297T>C r.(?) p.(Ile766Thr) g.29554281T>C - NF1_000018 rs863224657 - Germline - - - - Despoina Kalfakakou, Stevi Xera
-?/-? 2 - c.2325+16C>G r.(=) p.(=) g.29554325C>G - NF1_000269 rs371709563 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2325+30C>T r.(=) p.(=) g.29554339C>T - NF1_000163 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2325+31C>T r.(=) p.(=) g.29554340C>T - NF1_000268 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2325+38C>T r.(=) p.(=) g.29554347C>T - NF1_000180 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2325+42C>G r.(=) p.(=) g.29554351C>G - NF1_000306 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2325+46A>G r.(=) p.(=) g.29554355A>G - NF1_000307 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2325+47A>G r.(=) p.(=) g.29554356A>G - NF1_000219 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2325+51G>T r.(=) p.(=) g.29554360G>T - NF1_000220 - - Germline - - - - Despoina Kalfakakou
?/? 8 - c.2326-49T>G r.(=) p.(=) g.29554492T>G - NF1_000088 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.2326-36_2326-35insTA r.(=) p.(=) g.29554505_29554506insTA - NF1_000181 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2353G>A r.(?) p.(Glu785Lys) g.29554568G>A - NF1_000282 - - Germline - - - - Despoina Kalfakakou
./., ?/? 5 - c.2367G>A r.(=) p.(=) g.29554582G>A - NF1_000102 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./. 1 - c.2392A>C - - g.29554607A>C - NF1_000332 - - - - - - - Stevi Xera
?/? 6 - c.2409+28G>A r.(=) p.(=) g.29554652G>A - NF1_000155 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2409+39T>G r.(=) p.(=) g.29554663T>G - NF1_000193 - - Germline - - - - Despoina Kalfakakou
./. 1 - c.2435T>C - - g.29556068T>C - NF1_000353 - - - - - - - Stevi Xera
./. 1 - c.2473T>C - - g.29556106T>C - NF1_000333 - - - - - - - Stevi Xera
?/? 1 - c.2512A>G r.(?) p.(Ile838Val) g.29556145A>G - NF1_000283 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2564G>A r.(?) p.(Arg855Lys) g.29556197G>A - NF1_000261 - - Germline - - - - Despoina Kalfakakou
-?/-?, ./. 44 - c.2568C>G r.(?) p.(Ser856Arg) g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou, Stevi Xera
./., ?/? 12 - c.2568C>T r.(=) p.(=) g.29556201C>T - NF1_000074 - - Germline - - - - Despoina Kalfakakou, Stevi Xera
./. 1 - c.2573C>G - - g.29556206C>G - NF1_000354 - - - - - - - Stevi Xera
./. 1 - c.2599A>G - - g.29556232A>G - NF1_000356 - - - - - - - Stevi Xera
?/? 1 - c.2617C>T r.(?) p.(Arg873Cys) g.29556250C>T - NF1_000075 rs199474739 - Germline - - - - Despoina Kalfakakou
./. 1 - c.2618G>A - - g.29556251G>A - NF1_000350 - - - - - - - Stevi Xera
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