Transcript #00000346

Transcript name transcript variant Ia
Gene name SYN1 (synapsin I)
Chromosome X
Transcript - NCBI ID NM_006950.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_008881.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

100 entries on 1 page. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-4673C>T benign r.(?) p.(=)
-/. - c.-4673C>T benign r.(?) p.(=)
?/. - c.-4629A>G VUS r.(?) p.(=)
-?/. - c.-81T>C likely benign r.(?) p.(=)
-?/. - c.-28C>G likely benign r.(?) p.(=)
+?/. - c.2del likely pathogenic r.(?) p.0?
-?/. - c.139G>A likely benign r.(?) p.(Gly47Arg)
-?/. - c.189G>T likely benign r.(?) p.(=)
+?/. 1 c.236C>G - r.(?) p.(Ser79Trp)
-?/. - c.364C>T likely benign r.(?) p.(Pro122Ser)
?/. - c.378-321G>A - - p.(=)
?/. - c.378-321G>A - - p.(=)
?/. - c.378-281A>G - - p.(=)
?/. - c.378-281A>G - - p.(=)
-?/. - c.426A>G likely benign r.(?) p.(=)
-?/. - c.426A>G likely benign r.(?) p.(=)
-?/. 2 c.426A>G - r.(?) p.(=)
+/. - c.435+2T>C pathogenic r.spl? p.?
-?/. - c.450T>G likely benign r.(?) p.(Asp150Glu)
-?/. - c.450T>G likely benign r.(?) p.(Asp150Glu)
-?/. - c.472A>C likely benign r.(?) p.(Asn158His)
-?/. - c.472A>C likely benign r.(?) p.(Asn158His)
?/. - c.510T>C - - p.(=)
?/. - c.510T>C - - p.(=)
-/. - c.510T>C benign r.(?) p.(=)
-?/. 3 c.510T>C - r.(?) p.(=)
?/. - c.580C>T VUS r.(?) p.(Arg194Cys)
?/. - c.580C>T VUS r.(?) p.(Arg194Cys)
?/. - c.580C>T VUS r.(?) p.(Arg194Cys)
-?/. - c.580C>T likely benign r.(?) p.(Arg194Cys)
?/. - c.580C>T VUS r.(?) p.(Arg194Cys)
?/. - c.581G>A VUS r.(?) p.(Arg194His)
-?/. - c.599G>A likely benign r.(?) p.(Ser200Asn)
-?/. - c.684+60T>C likely benign r.(=) p.(=)
?/. - c.774+85del - - p.(=)
?/. - c.774+86del - - p.(=)
?/. - c.774+86del - - p.(=)
?/. - c.775-9753C>T - - p.(=)
?/. - c.775-9619A>C - - p.(=)
?/. - c.775-9619A>C - - p.(=)
-?/. - c.775-9177G>A likely benign r.(=) p.(=)
./. - c.775-9141C>T - r.(=) p.(=)
-?/. - c.775-9141C>T likely benign r.(=) p.(=)
?/. - c.775-9140G>A VUS r.(=) p.(=)
-?/. - c.775-9120C>T likely benign r.(=) p.(=)
-?/. - c.775-9078G>A likely benign r.(=) p.(=)
./. - c.775-9040G>A - r.(=) p.(=)
-?/. - c.775-8397G>A likely benign r.(=) p.(=)
?/. - c.775-8386T>C - - p.(=)
?/. - c.775-8386T>C - - p.(=)
-?/. - c.775-8121G>C likely benign r.(=) p.(=)
./. - c.775-8085A>G - r.(=) p.(=)
?/. - c.775-8085A>G - - p.(=)
?/. - c.775-8085A>G - - p.(=)
-?/. - c.775-8023C>T likely benign r.(=) p.(=)
?/. - c.775-7979C>G - - p.(=)
?/. - c.775-7979C>G - - p.(=)
./. - c.775-7763G>A - r.(=) p.(=)
-?/. - c.775-7508C>A likely benign r.(=) p.(=)
?/. - c.775-7461G>A VUS r.(=) p.(=)
-?/. - c.775-7461G>A likely benign r.(=) p.(=)
?/. - c.775-6211C>T - - p.(=)
?/. - c.775-6211C>T - - p.(=)
?/. - c.794C>T VUS r.(?) p.(Pro265Leu)
-?/. - c.838-134G>A likely benign r.(=) p.(=)
-?/. - c.944G>A likely benign r.(?) p.(Arg315His)
-?/. - c.980+14C>T likely benign r.(=) p.(=)
-?/. - c.1055+12G>A likely benign r.(=) p.(=)
-?/. - c.1056-14_1056-8del likely benign r.(=) p.(=)
-?/. - c.1107C>T likely benign r.(?) p.(=)
-?/. - c.1107C>T likely benign r.(?) p.(=)
-?/. - c.1107C>T likely benign r.(?) p.(=)
-?/. 9 c.1107C>T - r.(?) p.(=)
+/. - c.1264C>T pathogenic r.(?) p.(Arg422*)
-?/. - c.1297C>T likely benign r.(?) p.(His433Tyr)
-?/. - c.1305+114C>T likely benign r.(=) p.(=)
-?/. 11 c.1422C>T - r.(?) p.(=)
-?/. - c.1438C>T likely benign r.(?) p.(Pro480Ser)
-?/. - c.1615G>A likely benign r.(?) p.(Gly539Ser)
-?/. - c.1615G>A likely benign r.(?) p.(Gly539Ser)
-?/. - c.1629T>C likely benign r.(?) p.(=)
?/. - c.1660C>T VUS r.(?) p.(Pro554Ser)
-/. - c.1699A>G benign r.(?) p.(Thr567Ala)
-?/. - c.1699A>G likely benign r.(?) p.(Thr567Ala)
-?/. - c.1699A>G likely benign r.(?) p.(Thr567Ala)
-?/. - c.1938A>C likely benign r.(?) p.(=)
?/. - c.1983-349T>C - - p.(=)
-?/. - c.1996C>T likely benign r.(?) p.(=)
-/. - c.*48C>A benign r.(=) p.(=)
-?/. - c.*111C>T likely benign r.(=) p.(=)
-?/. - c.*1450T>G likely benign r.(=) p.(=)
?/. - c.*5490C>T VUS r.(=) p.(=)
?/. - c.*5498A>G VUS r.(=) p.(=)
-?/. - c.*5801A>C likely benign r.(=) p.(=)
-?/. - c.*5821C>A likely benign r.(=) p.(=)
-?/. - c.*5945G>T likely benign r.(=) p.(=)
?/. - c.*6159C>G VUS r.(=) p.(=)
-?/. - c.*7734T>C likely benign r.(=) p.(=)
-?/. - c.*8070G>A likely benign r.(=) p.(=)
?/. - c.*9853G>A VUS r.(=) p.(=)
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