Transcript #00000519

Transcript name transcript variant 1
Gene name RBMX (RNA binding motif protein, X-linked)
Chromosome X
Transcript - NCBI ID NM_002139.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002130.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

28 entries on 1 page. Showing entries 1 - 28.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-1C>A - - p.(=)
?/. - c.-1C>A - - p.(=)
?/. - c.-1del - - p.(=)
-/. - c.1dup benign r.? p.?
-?/. - c.183C>T likely benign r.(?) p.(=)
?/. - c.216+184C>G - - p.(=)
?/. - c.216+184C>G - - p.(=)
?/. - c.315_316insTT - - p.(Pro106Phefs*32)
?/. - c.388+96C>T - - p.(=)
?/. - c.388+96C>T - - p.(=)
-/. - c.594G>A benign r.(?) p.(=)
?/. - c.706C>T VUS r.(?) p.(Pro236Ser)
?/. - c.866-1_866insATTCATATGAGAGTTACG VUS r.spl? p.?
?/. - c.905_906insCC - - p.(Ser303Hisfs*137)
?/. - c.971G>C - - p.(Arg324Pro)
?/. - c.975C>G VUS r.(?) p.(Asp325Glu)
?/. - c.997G>T VUS r.(?) p.(Asp333Tyr)
?/. - c.1010G>A - - p.(Ser337Asn)
?/. - c.1015C>G - - p.(Arg339Gly)
?/. - c.1069T>C - - p.(Tyr357His)
?/. - c.1107C>T - - p.(=)
?/. - c.1129C>T - r.(?) p.(Arg377Cys)
?/. - c.1135G>C - - p.(Gly379Arg)
?/. - c.*83C>T - - p.(=)
?/. - c.*1075dup - - p.(=)
?/. - c.*1815_*1817del VUS r.(=) p.(=)
-?/. - c.*1815_*1817del likely benign r.(=) p.(=)
?/. - c.*1845T>C VUS r.(=) p.(=)
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