Transcript #00018635

Transcript name sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Gene name SEMA3A (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A)
Chromosome 7
Transcript - NCBI ID NM_006080.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006071.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

54 entries on 1 page. Showing entries 1 - 54.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. _1_1i c.(-153179_-147432)_(112+2389__112+3493)del - r.0? p.0?
?/. 2 c.196C>T - r.(?) p.(Arg66Trp)
+/. 2 c.196C>T - r.(?) p.(Arg66Trp)
+/. 2 c.196C>T - r.(?) p.(Arg66Trp)
+/. 2 c.196C>T - - p.Arg66Trp
?/. - c.440G>T VUS r.(?) p.(Gly147Val)
?/. - c.458A>G VUS r.(?) p.(Asn153Ser)
?/. - c.458A>G VUS r.(?) p.(Asn153Ser)
+/. 5 c.458A>G - r.(?) p.(Asn153Ser)
+/. 5 c.458A>G - - p.Asn153Ser
+?/. 6 c.607C>T - r.0? p.(Arg203*)
-/. - c.668-20C>T benign r.(=) p.(=)
-/. - c.668-20C>T benign r.(=) p.(=)
-/. 6i c.668-20C>T - r.= p.=
-/. - c.668-14T>A benign r.(=) p.(=)
-/. - c.668-14T>A benign r.(=) p.(=)
-/. 6i c.668-14T>A - r.= p.=
+/? 6i_17_ c.(667+1_668-1)_(*3028_?)del - r.? p.?
?/. - c.689A>G VUS r.(?) p.(His230Arg)
?/. - c.743G>A VUS r.(?) p.(Arg248His)
+/. 9 c.945_949delinsTACATCTTCTAATG - r.[925_926ins925+1_926-1,945_949delinsuacaucuucuaaug] p.[Gln309fs,Phe316_Lys317delinsThrSerSerAsnGlu]
+/. 11 c.1198A>G - r.(?) p.(Ile400Val)
+/. 11 c.1198A>G - - p.Ile400Val
-/. - c.1302T>C benign r.(?) p.(=)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - r.(?) p.(Val435Ile)
+/. 11 c.1303G>A - - p.Val435Ile
-/. - c.1361-14A>G benign r.(=) p.(=)
?/. 12 c.1382T>C - r.(?) p.(Val461Ala)
?/. - c.1450C>T VUS r.(?) p.(Arg484Trp)
-?/. 12i c.1453-3693del - r.(?) p.(=)
?/. - c.1561G>A VUS r.(?) p.(Gly521Arg)
-/. - c.1563G>C benign r.(?) p.(=)
-?/. - c.1591C>T likely benign r.(?) p.(Arg531*)
+/. 14 c.1613_1626del - r.(?) p.(Asp538Valfs*31)
+/. 14 c.1613_1626del - - p.(Asp538Valfs*31)
-/. - c.1653-6C>T benign r.(=) p.(=)
-/. - c.1653-6C>T benign r.(=) p.(=)
?/. - c.1654C>T VUS r.(?) p.(Arg552Cys)
+/. 17 c.2062A>G - r.(?) p.(Thr688Ala)
+/. 17 c.2062A>G - - p.Thr688Ala
?/. 16 c.2150C>T - r.(?) p.(Thr717Ile)
-/. - c.2151A>G benign r.(?) p.(=)
-/. - c.2151A>G benign r.(?) p.(=)
?/. 17 c.2189G>A - r.(?) p.(Arg730Gln)
?/. 17 c.2189G>A - r.(?) p.(Arg730Gln)
?/. 17 c.2189G>A - - p.Arg730Gln
?/. - c.2198G>A VUS r.(?) p.(Arg733His)
+/. 17 c.2198G>A - r.(?) p.(Arg733His)
+/. 17 c.2198G>A - - p.Arg733His
Legend