Transcript #00000770

Transcript name Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Gene name ARHGEF6 (Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6)
Chromosome X
Transcript - NCBI ID NM_004840.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_004831.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

46 entries on 1 page. Showing entries 1 - 46.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.166-11T>C likely benign r.(=) p.(=)
-?/. - c.169T>C likely benign r.(?) p.(Cys57Arg)
?/. - c.250-114_250-113insTTT - - p.(=)
?/. - c.250-113dup - - p.(=)
?/. - c.250-93_250-92insT - - p.(=)
-?/. - c.262G>C likely benign r.(?) p.(Asp88His)
?/. - c.293A>C VUS r.(?) p.(Lys98Thr)
-?/. - c.362G>A likely benign r.(?) p.(Arg121His)
?/. - c.362G>A - r.(?) p.(Arg121His)
-/. - c.362G>A benign r.(?) p.(Arg121His)
-/. - c.362G>A benign r.(?) p.(Arg121His)
-?/. - c.362G>A likely benign r.(?) p.(Arg121His)
?/. - c.451_452del VUS r.(?) p.(Lys151Aspfs*21)
?/. - c.553G>A VUS r.(?) p.(Asp185Asn)
?/. - c.571C>T VUS r.(?) p.(Arg191*)
-?/. - c.685G>A likely benign r.(?) p.(Val229Ile)
-?/. - c.685G>A likely benign r.(?) p.(Val229Ile)
+?/. - c.801C>A likely pathogenic r.(?) p.(Tyr267*)
-/. - c.891G>T benign r.(?) p.(Gln297His)
?/. - c.992A>G VUS r.(?) p.(Tyr331Cys)
?/. - c.992A>G - r.(?) p.(Tyr331Cys)
+?/. - c.1170A>C likely pathogenic r.(?) p.(Leu390Phe)
?/. - c.1223T>C VUS r.(?) p.(Ile408Thr)
-?/. - c.1343G>A likely benign r.(?) p.(Gly448Glu)
-?/. - c.1385C>T likely benign r.(?) p.(Ala462Val)
?/. - c.1392+55dup - - p.(=)
?/. - c.1392+55dup - - p.(=)
?/. - c.1392+73del - - p.(=)
-?/. - c.1406G>A likely benign r.(?) p.(Arg469Gln)
?/. - c.1480-3T>C VUS r.spl? p.?
-/. - c.1480-3T>C benign r.spl? p.?
?/. - c.1574G>C VUS r.(?) p.(Arg525Thr)
?/. - c.1574G>C VUS r.(?) p.(Arg525Thr)
?/. - c.1720G>A VUS r.(?) p.(Gly574Arg)
?/. - c.1736C>A VUS r.(?) p.(Pro579His)
?/. - c.1946-400G>A - - p.(=)
-?/. - c.2001C>T likely benign r.(?) p.(=)
?/. - c.2003C>G VUS r.(?) p.(Thr668Ser)
?/. - c.2089A>G VUS r.(?) p.(Ile697Val)
?/. - c.2093T>C VUS r.(?) p.(Ile698Thr)
?/. - c.2093T>C VUS r.(?) p.(Ile698Thr)
-?/. - c.2112C>T likely benign r.(?) p.(=)
-?/. - c.2145T>C likely benign r.(?) p.(=)
?/. - c.2191-390_2191-388del - - p.(=)
-?/. - c.2215C>A likely benign r.(?) p.(Leu739Met)
-?/. - c.2299G>A likely benign r.(?) p.(Glu767Lys)
Legend