Transcript #00007759 (NM_006329.3, FBLN5 gene)

Transcript name fibulin 5
Gene name FBLN5 (fibulin 5)
Chromosome 14
Transcript - NCBI ID NM_006329.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_006320.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

63 entries on 1 page. Showing entries 1 - 63.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.? r.(?) p.?
?/. 1 c.-414C>T r.(?) p.(=)
?/. 1 c.-414C>T r.(?) p.(=)
?/. 1 c.-414C>T r.(?) p.(=)
?/. 1 c.-414C>T r.(?) p.(=)
-?/. 1 c.-174del r.spl? p.?
-?/. 1 c.-139C>G r.spl? p.?
-?/. - c.-12C>T r.(?) p.(=)
-?/. 1i c.18-28A>G r.spl? p.?
-?/. 2 c.19+26T>A r.spl? p.?
-?/. 3i c.124+25T>C r.spl? p.?
-?/. 3i c.124+71C>T r.spl? p.?
-?/. 3i c.125-32C>T r.spl? p.?
?/. - c.224T>C r.(?) p.(Val75Ala)
?/. - c.224T>C r.(?) p.(Val75Ala)
?/. - c.268G>A r.(?) p.(Gly90Ser)
?/. - c.268G>A r.(?) p.(Gly90Ser)
?/. - c.268G>A r.(?) p.(Gly90Ser)
-?/. - c.268G>A r.(?) p.(Gly90Ser)
+/. - c.376G>A r.(?) p.(Val126Met)
-?/. - c.376G>A r.(?) p.(Val126Met)
?/. - c.376G>A r.(?) p.(Val126Met)
-?/. - c.376G>A r.(?) p.(Val126Met)
-?/. 5i c.502+14G>C r.spl? p.?
-/. - c.502+15G>C r.(=) p.(=)
-/. - c.502+15G>C r.(=) p.(=)
+/. 6 c.604G>A r.(?) p.(Gly202Arg)
-?/. 6i c.620-8T>C r.(=) p.(=)
+/. 7 c.649T>C r.(?) p.(Cys217Arg)
-?/. - c.651C>T r.(?) p.(Cys217=)
?/. - c.676G>A r.(?) p.(Gly226Ser)
+?/. - c.799G>A r.(?) p.(Gly267Ser)
?/. - c.799G>A r.(?) p.(Gly267Ser)
-?/. 8i c.863-61C>T r.spl? p.?
-/. - c.863-13C>T r.(=) p.(=)
-/. - c.945T>C r.(?) p.(Ile315=)
-/. - c.945T>C r.(?) p.(Ile315=)
-/. - c.945T>C r.(?) p.(Ile315=)
?/. 9 c.945T>C r.(?) p.(=)
?/. 9 c.945T>C r.(?) p.(=)
?/. 9 c.945T>C r.(?) p.(=)
?/. 9 c.945T>C r.(?) p.(=)
-/. - c.945T>C r.(?) p.(Ile315=)
-?/. 9 c.945T>C r.(=) p.(=)
?/. - c.949C>A r.(?) p.(Pro317Thr)
-/. - c.989+13G>A r.(=) p.(=)
-/. - c.989+13G>A r.(=) p.(=)
-/. - c.990-274T>C r.(=) p.(=)
?/. - c.1052G>A r.(?) p.(Arg351Gln)
+/. - c.1087G>A r.(?) p.(Ala363Thr)
+/. 10 c.1093A>G r.(?) p.(Ile365Val)
-/. - c.1122C>T r.(?) p.(Tyr374=)
-/. - c.1122C>T r.(?) p.(Tyr374=)
-?/. 10 c.1122C>T r.(=) p.(=)
+/. 10 c.1171G>T r.(?) p.(Glu391*)
?/. 10i c.1186-46A>G r.(?) p.(=)
?/. 10i c.1186-46A>G r.(?) p.(=)
?/. 10i c.1186-46A>G r.(?) p.(=)
?/. 10i c.1186-46A>G r.(?) p.(=)
-?/. - c.1191G>A r.(?) p.(Thr397=)
-?/. - c.1275C>T r.(?) p.(Val425=)
-/. - c.1341A>G r.(?) p.(Pro447=)
-?/. - c.1341A>G r.(?) p.(Pro447=)
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