All transcript variants in gene FH

Information The variants shown are described using the NM_000143.3 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-11C>T r.(=) p.(=) g.241683033G>A - FH_000027 - - - - Despoina Kalfakakou
./. - c.-11C>T r.(=) p.(=) g.241683033G>A - FH_000027 - - - - Despoina Kalfakakou
./. - c.41T>C r.(?) p.(Leu14Pro) g.241682982A>G - FH_000032 - - - - Despoina Kalfakakou
./. - c.73G>A r.(?) p.(Ala25Thr) g.241682950C>T - FH_000016 - - - - Despoina Kalfakakou
./. - c.73G>A r.(?) p.(Ala25Thr) g.241682950C>T - FH_000016 - - - - Despoina Kalfakakou
./. - c.77C>T r.(?) p.(Pro26Leu) g.241682946G>A - FH_000026 - - - - Despoina Kalfakakou
./. - c.178C>T r.(=) p.(=) g.241680571G>A - FH_000004 - - - - Despoina Kalfakakou
./. - c.178C>T r.(=) p.(=) g.241680571G>A - FH_000004 - - - - Despoina Kalfakakou
./. - c.207C>T r.(=) p.(=) g.241680542G>A - FH_000003 - - - - Despoina Kalfakakou
./. - c.207C>T r.(=) p.(=) g.241680542G>A - FH_000003 - - - - Despoina Kalfakakou
./. - c.310G>A r.(?) p.(Ala104Thr) g.241676971C>T - FH_000002 - - - - Despoina Kalfakakou
./. - c.346A>T r.(?) p.(Ile116Phe) g.241676935T>A - FH_000029 - - - - Despoina Kalfakakou
./. - c.358A>G r.(?) p.(Ile120Val) g.241676923T>C - FH_000013 - - - - Despoina Kalfakakou
./. - c.358A>G r.(?) p.(Ile120Val) g.241676923T>C - FH_000013 - - - - Despoina Kalfakakou
./. - c.358A>G r.(?) p.(Ile120Val) g.241676923T>C - FH_000013 - - - - Despoina Kalfakakou
./. - c.415G>A r.(?) p.(Val139Met) g.241675407C>T - FH_000031 - - - - Despoina Kalfakakou
./. - c.540T>C r.(=) p.(=) g.241675282A>G - FH_000012 - - - - Despoina Kalfakakou
./. - c.555+27_555+28insT r.(=) p.(=) g.241675239_241675240insA - FH_000022 - - - - Despoina Kalfakakou
./. - c.556-4A>G r.spl? p.? g.241672089T>C - FH_000030 - - - - Despoina Kalfakakou
./. - c.556-4A>G r.spl? p.? g.241672089T>C - FH_000030 - - - - Despoina Kalfakakou
./. - c.580G>A r.(?) p.(Ala194Thr) g.241672061C>T - FH_000001 - - - - Despoina Kalfakakou
./. - c.580G>A r.(?) p.(Ala194Thr) g.241672061C>T - FH_000001 - - - - Despoina Kalfakakou
./. - c.580G>A r.(?) p.(Ala194Thr) g.241672061C>T - FH_000001 - - - - Despoina Kalfakakou
./. - c.601A>G r.(?) p.(Ile201Val) g.241672040T>C - FH_000011 - - - - Despoina Kalfakakou
./. - c.602T>C r.(?) p.(Ile201Thr) g.241672039A>G - FH_000036 - - - - Despoina Kalfakakou
./. - c.611A>G r.(?) p.(His204Arg) g.241672030T>C - FH_000019 - - - - Despoina Kalfakakou
./. - c.611A>G r.(?) p.(His204Arg) g.241672030T>C - FH_000019 - - - - Despoina Kalfakakou
./. - c.618A>G r.(=) p.(=) g.241672023T>C - FH_000033 - - - - Despoina Kalfakakou
./. - c.620T>C r.(?) p.(Leu207Pro) g.241672021A>G - FH_000010 - - - - Despoina Kalfakakou
./. - c.655G>A r.(?) p.(Asp219Asn) g.241671986C>T - FH_000018 rs11545656 - - - Despoina Kalfakakou
./. - c.739-7_739-3del r.spl? p.? g.241669471_241669475del - FH_000007 - - - - Despoina Kalfakakou
./. - c.741A>G r.(=) p.(=) g.241669466T>C - FH_000039 - - - - Despoina Kalfakakou
./. - c.765A>G r.(=) p.(=) g.241669442T>C - FH_000014 - - - - Despoina Kalfakakou
./. - c.904+39C>G r.(=) p.(=) g.241669264G>C - FH_000034 - - - - Despoina Kalfakakou
./. - c.904+51T>C r.(=) p.(=) g.241669252A>G - FH_000025 - - - - Despoina Kalfakakou
./. - c.904+51T>C r.(=) p.(=) g.241669252A>G - FH_000025 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.905-39A>G r.(=) p.(=) g.241667584T>C - FH_000009 - - - - Despoina Kalfakakou
./. - c.915T>G r.(?) p.(Phe305Leu) g.241667535A>C - FH_000043 - - - - Despoina Kalfakakou
./. - c.969G>A r.(=) p.(=) g.241667481C>T - FH_000044 - - - - Despoina Kalfakakou
./. - c.1127A>C r.(?) p.(Gln376Pro) g.241665852T>G - FH_000015 - - - - Despoina Kalfakakou
./. - c.1127A>C r.(?) p.(Gln376Pro) g.241665852T>G - FH_000015 - - - - Despoina Kalfakakou
./. - c.1127A>C r.(?) p.(Gln376Pro) g.241665852T>G - FH_000015 - - - - Despoina Kalfakakou
./. - c.1202G>C r.(?) p.(Gly401Ala) g.241665777C>G - FH_000037 - - - - Despoina Kalfakakou
./. - c.1237-51G>C r.(=) p.(=) g.241663941C>G - FH_000042 - - - - Despoina Kalfakakou
./. - c.1237-17_1237-16insTCTCTC r.(=) p.(=) g.241663906_241663907insGAGAGA - FH_000040 - - - - Despoina Kalfakakou
./. - c.1237-16_1237-13del r.(=) p.(=) g.241663903_241663906del - FH_000041 - - - - Despoina Kalfakakou
./. - c.1237-15_1237-14insTCTC r.(=) p.(=) g.241663904_241663905insGAGA - FH_000006 - - - - Despoina Kalfakakou
./. - c.1237-15_1237-14insTCTC r.(=) p.(=) g.241663904_241663905insGAGA - FH_000006 - - - - Despoina Kalfakakou
./. - c.1237-15_1237-14insTCTC r.(=) p.(=) g.241663904_241663905insGAGA - FH_000006 - - - - Despoina Kalfakakou
./. - c.1237-15_1237-14insTCTCTCTC r.(=) p.(=) g.241663904_241663905insGAGAGAGA - FH_000045 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13del r.(=) p.(=) g.241663903_241663904del - FH_000005 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13dup r.(=) p.(=) g.241663903_241663904dup - FH_000008 - - - - Despoina Kalfakakou
./. - c.1237-14_1237-13dup r.(=) p.(=) g.241663903_241663904dup - FH_000008 - - - - Despoina Kalfakakou
./. - c.1322A>G r.(?) p.(Asn441Ser) g.241663805T>C - FH_000035 - - - - Despoina Kalfakakou
./. - c.1390+36G>A r.(=) p.(=) g.241663701C>T - FH_000017 - - - - Despoina Kalfakakou
./. - c.1390+36G>A r.(=) p.(=) g.241663701C>T - FH_000017 - - - - Despoina Kalfakakou
./. - c.1390+36G>A r.(=) p.(=) g.241663701C>T - FH_000017 - - - - Despoina Kalfakakou
./. - c.1391-3C>G r.spl? p.? g.241661273G>C - FH_000020 - - - - Despoina Kalfakakou
./. - c.1433_1434insAAA r.(?) p.(Lys477dup) g.241661227_241661228insTTT - FH_000021 - - - - Despoina Kalfakakou
./. - c.1459A>G r.(?) p.(Ile487Val) g.241661202T>C - FH_000024 - - - - Despoina Kalfakakou
./. - c.*29_*30del r.(=) p.(=) g.241661098_241661099del - FH_000023 - - - - Despoina Kalfakakou
./. - c.*36A>C r.(=) p.(=) g.241661092T>G - FH_000028 - - - - Despoina Kalfakakou
./. - c.*42A>G r.(=) p.(=) g.241661086T>C - FH_000038 - - - - Despoina Kalfakakou
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