Transcript #00001217

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

94 entries on 1 page. Showing entries 1 - 94.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-4G>C benign r.(?) p.(=)
+/? _1_18_ c.1-?_2885+?del - r.0? p.0?
-/. - c.110C>T benign r.(?) p.(Ala37Val)
?/? 1 c.110C>T - r.(?) p.(Ala37Val)
-/. - c.110C>T benign r.(?) p.(Ala37Val)
-?/. - c.395G>A likely benign r.(?) p.(Arg132Gln)
-/. - c.395G>A benign r.(?) p.(Arg132Gln)
-?/. - c.395G>A likely benign r.(?) p.(Arg132Gln)
-?/. - c.395G>A likely benign r.(?) p.(Arg132Gln)
?/. - c.395G>A VUS r.(?) p.(Arg132Gln)
-?/. - c.515G>C likely benign r.(?) p.(Arg172Pro)
+/? 3 c.529dupC - r.(?) p.(Leu177Profs*40)
+/? 3 c.529dupC - r.(?) p.(Leu177Profs*40)
+/? 3 c.529dupC - r.(?) p.(Leu177Profs*40)
?/. - c.530T>C VUS r.(?) p.(Leu177Pro)
+/. - c.577C>T pathogenic r.(?) p.(Arg193*)
+/? 3 c.614G>T - r.(?) p.(Ser205Ile)
-?/. - c.676G>A likely benign r.(?) p.(Ala226Thr)
-?/. - c.676G>A likely benign r.(?) p.(Ala226Thr)
-?/. - c.676G>A likely benign r.(?) p.(Ala226Thr)
?/. - c.712C>T VUS r.(?) p.(Pro238Ser)
+/? 4 c.806delC - r.(?) p.(Ala269Valfs*91)
-?/. - c.935C>T likely benign r.(?) p.(Pro312Leu)
?/? 4 c.935C>T - r.(?) p.(Pro312Leu)
-?/. - c.935C>T likely benign r.(?) p.(Pro312Leu)
+/. - c.939_964del pathogenic r.(?) p.(Pro314Cysfs*14)
+/? 4 c.944_975del - r.(?) p.(Pro315Argfs*11)
+/? 4 c.945_946insC - r.(?) p.(Ala316Argfs*4)
+/? 4 c.982delC - r.(?) p.(His328Thrfs*32)
?/. - c.1026G>C VUS r.(?) p.(Glu342Asp)
-?/. - c.1136A>G likely benign r.(?) p.(Asn379Ser)
+/? 5 c.1139A>C - r.(?) p.(Glu380Ala)
-?/. - c.1192-4A>G likely benign r.spl? p.?
+/. - c.1204C>T pathogenic r.(?) p.(Arg402Trp)
+/? 6 c.1205G>A - r.(?) p.(Arg402Gln)
+/? 6 c.1223G>A - r.(?) p.(Arg408Gln)
+/? 6 c.1316_1319del - r.(?) p.(Leu440Argfs*31)
+/? 6 c.1316_1319del - r.(?) p.(Leu440Argfs*31)
+/? 6 c.1328G>A - r.(?) p.(Arg443His)
+/? 6 c.1328G>T - r.(?) p.(Arg443Leu)
-?/. - c.1340+9C>T likely benign r.(=) p.(=)
+/? 7 c.1392_1393insG - r.(?) p.(Lys465Glufs*5)
+/? 7 c.1396A>G - r.(?) p.(Met466Val)
?/. - c.1412T>C VUS r.(?) p.(Val471Ala)
-?/. - c.1464C>T likely benign r.(?) p.(=)
?/. - c.1487A>G VUS r.(?) p.(His496Arg)
+?/. - c.1519C>G likely pathogenic r.(?) p.(Leu507Val)
+?/. - c.1546C>T likely pathogenic r.(?) p.(Pro516Ser)
?/? 8 c.1555C>A - r.(?) p.(Arg519Ser)
+?/. - c.1556G>A likely pathogenic r.(?) p.(Arg519His)
+/? 8 c.1565G>A - r.(?) p.(Arg522His)
+/? 8 c.1565G>A - r.(?) p.(Arg522His)
+/? 8 c.1590T>A - r.(?) p.(Tyr530*)
+/? 8 c.1620delC - r.(?) p.(Asp540Glufs*11)
-?/. 8i c.1637-83dup - r.(?) p.(=)
+/. - c.1637_1638del pathogenic r.(?) p.(Lys546Ilefs*24)
+/? 9_13 c.1659+?_2044-?del - r.(?) p.0?
+/? 9 c.1673C>G - r.(?) p.(Ser558Trp)
+/? 10 c.1829G>A - r.(?) p.(Arg610Gln)
?/? 10i c.1842+1G>T - r.spl? p.?
+/? 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*)
+/. - c.1966C>T pathogenic r.(?) p.(Arg656*)
+/+ 12i c.2016-35del - r.2016_2046del p.Thr673Profs*7
./. - c.2020_2022del - r.(?) p.(Glu676del)
+/? 13 c.2026_2028del - r.(?) p.(Glu676del)
+/. 13 c.2037C>A - r.(?) p.(Asp679Glu)
-?/. - c.2043C>T likely benign r.(?) p.(=)
-/. - c.2046+114C>G benign r.(=) p.(=)
-?/. - c.2047-5C>A likely benign r.spl? p.?
-?/. - c.2047-5C>A likely benign r.spl? p.?
+/. - c.2048C>A pathogenic r.(?) p.(Ala683Asp)
-?/? 14 c.2091T>C - r.(?) p.(=)
+/. - c.2116_2117del pathogenic r.(?) p.(Arg706Glyfs*3)
-?/? 14 c.2136A>G - r.(?) p.(=)
-?/. - c.2149-7C>G likely benign r.(=) p.(=)
?/. - c.2168G>A VUS r.(?) p.(Arg723Gln)
?/. - c.2168G>A VUS r.(?) p.(Arg723Gln)
?/. - c.2168G>A VUS r.(?) p.(Arg723Gln)
+/? 15 c.2192delA - r.(?) p.(Lys731Argfs*132)
+/? 15 c.2221G>T - r.(?) p.(Glu741*)
+/? 15 c.2242A>G - r.(?) p.(Lys748Glu)
?/. - c.2245C>T VUS r.(?) p.(Arg749Cys)
-?/. - c.2268C>T likely benign r.(?) p.(=)
?/. - c.2309G>A VUS r.(?) p.(Arg770His)
-?/. - c.2467G>A likely benign r.(?) p.(Val823Ile)
+/? 17 c.2530delG - r.(?) p.(Val844Trpfs*19)
?/. - c.2729G>A VUS r.(?) p.(Arg910Gln)
-/. - c.2729G>A benign r.(?) p.(Arg910Gln)
?/. - c.2822C>T VUS r.(?) p.(Pro941Leu)
-?/. 18 c.*623del - r.(=) p.(=)
-?/. - c.*2648A>G likely benign r.(=) p.(=)
Legend