Transcript #00001217 (NM_004463.2, FGD1 gene)

Transcript name FYVE, RhoGEF and PH domain containing 1
Gene name FGD1 (FYVE, RhoGEF and PH domain containing 1)
Chromosome X
Transcript - NCBI ID NM_004463.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004454.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

120 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-4G>C r.(?) p.(=)
+/? _1_18_ c.1-?_2885+?del r.0? p.0?
?/. - c.85G>C r.(?) p.(Ala29Pro)
-/. - c.110C>T r.(?) p.(Ala37Val)
?/? 1 c.110C>T r.(?) p.(Ala37Val)
-/. - c.110C>T r.(?) p.(Ala37Val)
?/. - c.113C>G r.(?) p.(Ser38Trp)
-?/. - c.134G>A r.(?) p.(Arg45His)
-?/. - c.201C>A r.(?) p.(Ser67Arg)
-?/. - c.281A>G r.(?) p.(His94Arg)
-?/. - c.395G>A r.(?) p.(Arg132Gln)
-/. - c.395G>A r.(?) p.(Arg132Gln)
-?/. - c.395G>A r.(?) p.(Arg132Gln)
-?/. - c.395G>A r.(?) p.(Arg132Gln)
+/. - c.527dup r.(?) p.(Leu177Thrfs*40)
+/? 3 c.529dup r.(?) p.(Leu177Profs*40)
+/? 3 c.529dup r.(?) p.(Leu177Profs*40)
+/? 3 c.529dup r.(?) p.(Leu177Profs*40)
?/. - c.530T>C r.(?) p.(Leu177Pro)
-?/. - c.546T>A r.(?) p.(Pro182=)
?/. - c.563T>A r.(?) p.(Leu188Gln)
+/. - c.577C>T r.(?) p.(Arg193Ter)
+/? 3 c.614G>T r.(?) p.(Ser205Ile)
-?/. - c.676G>A r.(?) p.(Ala226Thr)
-?/. - c.676G>A r.(?) p.(Ala226Thr)
-?/. - c.676G>A r.(?) p.(Ala226Thr)
-?/. - c.695C>T r.(?) p.(Pro232Leu)
?/. - c.712C>T r.(?) p.(Pro238Ser)
?/. - c.772G>A r.(?) p.(Glu258Lys)
+/? 4 c.806del r.(?) p.(Ala269Valfs*91)
-?/. - c.820G>A r.(?) p.(Asp274Asn)
?/. - c.889A>T r.(?) p.(Thr297Ser)
+/. - c.892dup r.(?) p.(Cys298Leufs*5)
-?/. - c.935C>T r.(?) p.(Pro312Leu)
?/? 4 c.935C>T r.(?) p.(Pro312Leu)
-?/. - c.935C>T r.(?) p.(Pro312Leu)
-?/. - c.935C>T r.(?) p.(Pro312Leu)
+/. - c.939_964del r.(?) p.(Pro314CysfsTer14)
+/? 4 c.944_975del r.(?) p.(Pro315Argfs*11)
+/? 4 c.945_946insC r.(?) p.(Ala316Argfs*4)
-?/. - c.976G>A r.(?) p.(Asp326Asn)
+/? 4 c.982del r.(?) p.(His328Thrfs*32)
?/. - c.1026G>C r.(?) p.(Glu342Asp)
-?/. - c.1136A>G r.(?) p.(Asn379Ser)
+/? 5 c.1139A>C r.(?) p.(Glu380Ala)
-?/. - c.1164C>T r.(?) p.(Tyr388=)
+/. - c.1204C>T r.(?) p.(Arg402Trp)
+/? 6 c.1205G>A r.(?) p.(Arg402Gln)
+/? 6 c.1223G>A r.(?) p.(Arg408Gln)
+/? 6 c.1318_1321del r.(?) p.(Leu440Argfs*31)
+/? 6 c.1318_1321del r.(?) p.(Leu440Argfs*31)
+/? 6 c.1328G>A r.(?) p.(Arg443His)
+/. - c.1328G>A r.(?) p.(Arg443His)
+/? 6 c.1328G>T r.(?) p.(Arg443Leu)
-?/. - c.1340+9C>T r.(=) p.(=)
+/? 7 c.1392_1393insG r.(?) p.(Lys465Glufs*5)
+/? 7 c.1396A>G r.(?) p.(Met466Val)
?/. - c.1412T>C r.(?) p.(Val471Ala)
-?/. - c.1464C>T r.(?) p.(Ser488=)
?/. - c.1487A>G r.(?) p.(His496Arg)
+?/. - c.1519C>G r.(?) p.(Leu507Val)
+?/. - c.1546C>T r.(?) p.(Pro516Ser)
?/? 8 c.1555C>A r.(?) p.(Arg519Ser)
+/. - c.1556G>A r.(?) p.(Arg519His)
+/? 8 c.1565G>A r.(?) p.(Arg522His)
+/? 8 c.1565G>A r.(?) p.(Arg522His)
+/? 8 c.1590T>A r.(?) p.(Tyr530*)
-?/. - c.1617G>A r.(?) p.(Pro539=)
+/? 8 c.1620del r.(?) p.(Asp540Glufs*11)
?/. - c.1625A>G r.(?) p.(Lys542Arg)
-?/. 8i c.1637-72dup r.(=) p.(=)
+/. - c.1637_1638del r.(?) p.(Lys546IlefsTer24)
+/? 9_13 c.1659+?_2044-?del r.(?) p.0?
+/? 9 c.1673C>G r.(?) p.(Ser558Trp)
-?/. - c.1695+10C>T r.(=) p.(=)
+/? 10 c.1829G>A r.(?) p.(Arg610Gln)
+/. - c.1833C>A r.(?) p.(Tyr611Ter)
?/? 10i c.1842+1G>T r.spl? p.?
-?/. - c.1842+20T>C r.(=) p.(=)
+?/. - c.1912_1913insCC r.(?) p.(Arg638ProfsTer5)
+/? 11i c.1935+3A>C r.spl? p.?
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/? 12 c.1966C>T r.(?) p.(Arg656*)
+/+ 12i c.2016-35del r.2016_2046del p.Thr673Profs*7
./. - c.2026_2028del r.(?) p.(Glu676del)
+/? 13 c.2026_2028del r.(?) p.(Glu676del)
+/. 13 c.2037C>A r.(?) p.(Asp679Glu)
-?/. - c.2043C>T r.(?) p.(Val681=)
-?/. - c.2043C>T r.(?) p.(Val681=)
-/. - c.2046+114C>G r.(=) p.(=)
-?/. - c.2047-5C>A r.spl? p.?
+?/. - c.2047-1G>A r.spl? p.?
+/. - c.2048C>A r.(?) p.(Ala683Asp)
-?/? 14 c.2091T>C r.(?) p.(=)
+/. - c.2116_2117del r.(?) p.(Arg706GlyfsTer3)
-?/? 14 c.2136A>G r.(?) p.(=)
?/. - c.2168G>A r.(?) p.(Arg723Gln)
?/. - c.2168G>A r.(?) p.(Arg723Gln)
?/. - c.2168G>A r.(?) p.(Arg723Gln)
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