Unique variants in gene NF1

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

283 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     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 16 - c.-22G>C r.(=) p.(=) g.29422306G>C - NF1_000020 - - - - Despoina Kalfakakou
./. 3 - c.60+15G>A r.(=) p.(=) g.29422402G>A - NF1_000129 - - - - Despoina Kalfakakou
./. 2 - c.60+49del r.(=) p.(=) g.29422436del - NF1_000162 - - - - Despoina Kalfakakou
./. 1 - c.61-17T>C r.(=) p.(=) g.29482984T>C - NF1_000276 - - - - Despoina Kalfakakou
./. 1 - c.134A>G r.(?) p.(Asn45Ser) g.29483074A>G - NF1_000215 - - - - Despoina Kalfakakou
./. 1 - c.157T>C r.(=) p.(=) g.29483097T>C - NF1_000286 - - - - Despoina Kalfakakou
./. 1 - c.204G>A r.(?) p.(Met68Ile) g.29483144G>A - NF1_000153 - - - - Despoina Kalfakakou
./. 20 - c.204+51G>C r.(=) p.(=) g.29483195G>C - NF1_000021 rs17885980 - - - Despoina Kalfakakou
./. 2 - c.235T>C r.(=) p.(=) g.29486058T>C - NF1_000289 - - - - Despoina Kalfakakou
./. 2 - c.288+28G>A r.(=) p.(=) g.29486139G>A - NF1_000190 - - - - Despoina Kalfakakou
./. 1 - c.288+42A>G r.(=) p.(=) g.29486153A>G - NF1_000022 - - - - Despoina Kalfakakou
./. 1 - c.289-43G>A r.(=) p.(=) g.29490161G>A - NF1_000212 - - - - Despoina Kalfakakou
./. 2 - c.340C>T r.(=) p.(=) g.29490255C>T - NF1_000198 rs7207410 - - - Despoina Kalfakakou
./. 1 - c.381_382del r.(?) p.(Asn128Profs*5) g.29490296_29490297del - NF1_000243 - - - - Despoina Kalfakakou
./. 1 - c.466C>T r.(?) p.(Arg156Cys) g.29490381C>T - NF1_000293 - - - - Despoina Kalfakakou
./. 1 - c.484C>T r.(?) p.(Gln162*) g.29496913C>T - NF1_000260 - - - - Despoina Kalfakakou
./. 5 - c.584A>G r.(?) p.(Lys195Arg) g.29497013A>G - NF1_000191 - - - - Despoina Kalfakakou
./. 1 - c.586+51A>G r.(=) p.(=) g.29497066A>G - NF1_000202 - - - - Despoina Kalfakakou
./. 2 - c.587-20A>T r.(=) p.(=) g.29508420A>T - NF1_000192 - - - - Despoina Kalfakakou
./. 1 - c.587-11G>T r.(=) p.(=) g.29508429G>T - NF1_000100 - - - - Despoina Kalfakakou
./. 1 - c.654+15C>T r.(=) p.(=) g.29508522C>T - NF1_000161 - - - - Despoina Kalfakakou
./. 2 - c.654+28A>G r.(=) p.(=) g.29508535A>G - NF1_000213 - - - - Despoina Kalfakakou
./. 2 - c.655-37A>C r.(=) p.(=) g.29508691A>C - NF1_000023 - - - - Despoina Kalfakakou
./. 7 - c.655-29T>C r.(=) p.(=) g.29508699T>C - NF1_000101 - - - - Despoina Kalfakakou
./. 1 - c.655-23G>T r.(=) p.(=) g.29508705G>T - NF1_000103 - - - - Despoina Kalfakakou
./. 2 - c.696A>G r.(=) p.(=) g.29508769A>G - NF1_000105 - - - - Despoina Kalfakakou
./. 1 - c.730+10C>A r.(=) p.(=) g.29508813C>A - NF1_000106 - - - - Despoina Kalfakakou
./. 8 - c.730+15G>T r.(=) p.(=) g.29508818G>T - NF1_000024 - - - - Despoina Kalfakakou
./. 21 - c.730+17del r.(=) p.(=) g.29508820del - NF1_000038 - - - - Despoina Kalfakakou
./. 21 - c.730+17dup r.(=) p.(=) g.29508820dup - NF1_000037 - - - - Despoina Kalfakakou
./. 2 - c.730+17_730+18del r.(=) p.(=) g.29508820_29508821del - NF1_000251 - - - - Despoina Kalfakakou
./. 2 - c.730+18dup r.(=) p.(=) g.29508821dup - NF1_000250 - - - - Despoina Kalfakakou
./. 1 - c.731-6A>C r.(=) p.(=) g.29509520A>C - NF1_000265 - - - - Despoina Kalfakakou
./. 26 - c.846G>A r.(=) p.(=) g.29509641G>A - NF1_000025 - - - - Despoina Kalfakakou
./. 1 - c.889-30_889-26del r.(=) p.(=) g.29527410_29527414del - NF1_000039 - - - - Despoina Kalfakakou
./. 1 - c.894A>G r.(=) p.(=) g.29527445A>G - NF1_000240 - - - - Despoina Kalfakakou
./. 5 - c.899T>C r.(?) p.(Leu300Pro) g.29527450T>C - NF1_000143 - - - - Despoina Kalfakakou
./. 12 - c.1062+5C>T r.spl? p.? g.29527618C>T - NF1_000110 - - - - Despoina Kalfakakou
./. 1 - c.1062+46A>G r.(=) p.(=) g.29527659A>G - NF1_000231 - - - - Despoina Kalfakakou
./. 22 - c.1185+29A>G r.(=) p.(=) g.29528206A>G - NF1_000040 - - - - Despoina Kalfakakou
./. 1 - c.1186-19T>A r.(=) p.(=) g.29528410T>A - NF1_000111 - - - - Despoina Kalfakakou
./. 10 - c.1260+15T>C r.(=) p.(=) g.29528518T>C - NF1_000001 - - - - Despoina Kalfakakou
./. 1 - c.1260+37T>A r.(=) p.(=) g.29528540T>A - NF1_000290 - - - - Despoina Kalfakakou
./. 5 - c.1261-46C>T r.(=) p.(=) g.29533212C>T - NF1_000097 - - - - Despoina Kalfakakou
./. 1 - c.1296G>A r.(=) p.(=) g.29533293G>A - NF1_000154 - - - - Despoina Kalfakakou
./. 1 - c.1308G>A r.(=) p.(=) g.29533305G>A - NF1_000210 - - - - Despoina Kalfakakou
./. 1 - c.1392+5G>T r.spl? p.? g.29533394G>T - NF1_000098 - - - - Despoina Kalfakakou
./. 1 - c.1392+6A>T r.(=) p.(=) g.29533395A>T - NF1_000099 - - - - Despoina Kalfakakou
./. 8 - c.1466A>G r.(?) p.(Tyr489Cys) g.29541542A>G - NF1_000144 - - - - Despoina Kalfakakou
./. 38 - c.1513A>G r.(?) p.(Lys505Glu) g.29541589A>G - NF1_000056 - - - - Despoina Kalfakakou
./. 2 - c.1527+17G>A r.(=) p.(=) g.29541620G>A - NF1_000211 - - - - Despoina Kalfakakou
./. 1 - c.1527+32T>G r.(=) p.(=) g.29541635T>G - NF1_000194 - - - - Despoina Kalfakakou
./. 1 - c.1527+46A>C r.(=) p.(=) g.29541649A>C - NF1_000150 - - - - Despoina Kalfakakou
./. 1 - c.1527+50G>T r.(=) p.(=) g.29541653G>T - NF1_000151 - - - - Despoina Kalfakakou
./. 1 - c.1641+41G>A r.(=) p.(=) g.29546177G>A - NF1_000244 - - - - Despoina Kalfakakou
./. 35 - c.1700T>G r.(?) p.(Val567Gly) g.29548926T>G - NF1_000057 - - - - Despoina Kalfakakou
./. 15 - c.1722-37G>A r.(=) p.(=) g.29550425G>A - NF1_000041 - - - - Despoina Kalfakakou
./. 29 - c.1722-36A>T r.(=) p.(=) g.29550426A>T - NF1_000042 - - - - Despoina Kalfakakou
./. 65 - c.1722-16C>T r.(=) p.(=) g.29550446C>T - NF1_000044 - - - - Despoina Kalfakakou
./. 1 - c.1797G>A r.(?) p.(Trp599*) g.29550537G>A - NF1_000259 - - - - Despoina Kalfakakou
./. 1 - c.1810T>C r.(=) p.(=) g.29550550T>C - NF1_000203 - - - - Despoina Kalfakakou
./. 5 - c.1845+5G>A r.spl? p.? g.29550590G>A - NF1_000152 - - - - Despoina Kalfakakou
./. 5 - c.1845+7A>G r.(=) p.(=) g.29550592A>G - NF1_000147 - - - - Despoina Kalfakakou
./. 5 - c.1845+45G>T r.(=) p.(=) g.29550630G>T - NF1_000091 - - - - Despoina Kalfakakou
./. 6 - c.1845+48A>G r.(=) p.(=) g.29550633A>G - NF1_000177 - - - - Despoina Kalfakakou
./. 2 - c.1884C>T r.(=) p.(=) g.29552151C>T - NF1_000145 - - - - Despoina Kalfakakou
./. 1 - c.1900A>G r.(?) p.(Ile634Val) g.29552167A>G - NF1_000274 - - - - Despoina Kalfakakou
./. 1 - c.1922G>A r.(?) p.(Ser641Asn) g.29552189G>A - NF1_000249 - - - - Despoina Kalfakakou
./. 2 - c.1976G>A r.(?) p.(Arg659Gln) g.29552243G>A - NF1_000146 - - - - Despoina Kalfakakou
./. 1 - c.1994C>T r.(?) p.(Ser665Phe) g.29552261C>T - NF1_000296 - - - - Despoina Kalfakakou
./. 14 - c.2001+12C>T r.(=) p.(=) g.29552280C>T - NF1_000012 - - - - Despoina Kalfakakou
./. 4 - c.2001+17C>A r.(=) p.(=) g.29552285C>A - NF1_000014 - - - - Despoina Kalfakakou
./. 1 - c.2001+44del r.(=) p.(=) g.29552312del - NF1_000226 - - - - Despoina Kalfakakou
./. 1 - c.2001+45T>C r.(=) p.(=) g.29552313T>C - NF1_000225 - - - - Despoina Kalfakakou
./. 13 - c.2002-18T>A r.(=) p.(=) g.29553435T>A - NF1_000092 - - - - Despoina Kalfakakou
./. 1 - c.2019C>T r.(=) p.(=) g.29553470C>T - NF1_000287 - - - - Despoina Kalfakakou
./. 1 - c.2022C>T r.(=) p.(=) g.29553473C>T - NF1_000178 rs2230851 - - - Despoina Kalfakakou
./. 1 - c.2033C>T r.(?) p.(Pro678Leu) g.29553484C>T - NF1_000093 rs17881753 - - - Despoina Kalfakakou
./. 2 - c.2036T>C r.(?) p.(Ile679Thr) g.29553487T>C - NF1_000094 - - - - Despoina Kalfakakou
./. 3 - c.2058A>T r.(?) p.(Lys686Asn) g.29553509A>T - NF1_000095 - - - - Despoina Kalfakakou
./. 1 - c.2065G>A r.(?) p.(Val689Met) g.29553516G>A - NF1_000281 - - - - Despoina Kalfakakou
./. 1 - c.2204A>C r.(?) p.(Tyr735Ser) g.29553655A>C - NF1_000179 - - - - Despoina Kalfakakou
./. 1 - c.2239A>G r.(?) p.(Met747Val) g.29553690A>G - NF1_000131 - - - - Despoina Kalfakakou
./. 1 - c.2252-34T>C r.(=) p.(=) g.29554202T>C - NF1_000254 - - - - Despoina Kalfakakou
./. 12 - c.2252-31A>T r.(=) p.(=) g.29554205A>T - NF1_000016 - - - - Despoina Kalfakakou
./. 1 - c.2255G>C r.(?) p.(Arg752Thr) g.29554239G>C - NF1_000096 - - - - Despoina Kalfakakou
./. 12 - c.2297T>C r.(?) p.(Ile766Thr) g.29554281T>C - NF1_000018 - - - - Despoina Kalfakakou
./. 2 - c.2325+16C>G r.(=) p.(=) g.29554325C>G - NF1_000269 - - - - Despoina Kalfakakou
./. 2 - c.2325+30C>T r.(=) p.(=) g.29554339C>T - NF1_000163 - - - - Despoina Kalfakakou
./. 1 - c.2325+31C>T r.(=) p.(=) g.29554340C>T - NF1_000268 - - - - Despoina Kalfakakou
./. 1 - c.2325+38C>T r.(=) p.(=) g.29554347C>T - NF1_000180 - - - - Despoina Kalfakakou
./. 2 - c.2325+47A>G r.(=) p.(=) g.29554356A>G - NF1_000219 - - - - Despoina Kalfakakou
./. 2 - c.2325+51G>T r.(=) p.(=) g.29554360G>T - NF1_000220 - - - - Despoina Kalfakakou
./. 8 - c.2326-49T>G r.(=) p.(=) g.29554492T>G - NF1_000088 - - - - Despoina Kalfakakou
./. 4 - c.2326-36_2326-35insTA r.(=) p.(=) g.29554505_29554506insTA - NF1_000181 - - - - Despoina Kalfakakou
./. 105 - c.2326-15T>C r.(=) p.(=) g.29554526T>C - NF1_000003 - - - - Despoina Kalfakakou
./. 1 - c.2353G>A r.(?) p.(Glu785Lys) g.29554568G>A - NF1_000282 - - - - Despoina Kalfakakou
./. 4 - c.2367G>A r.(=) p.(=) g.29554582G>A - NF1_000102 - - - - Despoina Kalfakakou
./. 6 - c.2409+28G>A r.(=) p.(=) g.29554652G>A - NF1_000155 - - - - Despoina Kalfakakou
./. 1 - c.2409+39T>G r.(=) p.(=) g.29554663T>G - NF1_000193 - - - - Despoina Kalfakakou
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