Transcript #00013367

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 -
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-172del r.(=) p.(=)
./. - c.17+158T>A r.(=) p.(=)
./. - c.17+335T>G r.(=) p.(=)
./. - c.17+515T>C r.(=) p.(=)
./. - c.18-87G>A r.(=) p.(=)
./. - c.18-28A>G r.(=) p.(=)
./. - c.72+26T>A r.(=) p.(=)
./. - c.72+148A>G r.(=) p.(=)
./. - c.72+714A>G r.(=) p.(=)
./. - c.72+755A>G r.(=) p.(=)
./. - c.72+942T>C r.(=) p.(=)
./. - c.124+63A>C r.(=) p.(=)
./. - c.124+123T>C r.(=) p.(=)
./. - c.124+570G>A r.(=) p.(=)
./. - c.124+588T>C r.(=) p.(=)
./. - c.125-115A>G r.(=) p.(=)
./. - c.125-88C>T r.(=) p.(=)
./. - c.125-45G>C r.(=) p.(=)
./. - c.125-39_125-38insT r.(=) p.(=)
./. - c.143C>T r.(?) p.(Thr48Ile)
./. - c.376G>A r.(?) p.(Val126Met)
./. - c.380-57G>A r.(=) p.(=)
./. - c.502+45G>A r.(=) p.(=)
./. - c.502+66G>A r.(=) p.(=)
./. - c.502+69T>C r.(=) p.(=)
./. - c.502+116A>G r.(=) p.(=)
./. - c.502+120C>G r.(=) p.(=)
./. - c.502+124A>G r.(=) p.(=)
./. - c.502+128_502+129insG r.(=) p.(=)
./. - c.503-141A>C r.(=) p.(=)
./. - c.503-79C>T r.(=) p.(=)
./. - c.503-15C>T r.(=) p.(=)
./. - c.604G>A r.(?) p.(Gly202Arg)
./. - c.619+10G>A r.(=) p.(=)
./. - c.620-135C>T r.(=) p.(=)
./. - c.620-8T>C r.(=) p.(=)
./. - c.739+125C>G r.(=) p.(=)
./. - c.740-52C>T r.(=) p.(=)
./. - c.863-61C>T r.(=) p.(=)
./. - c.863-13C>T r.(=) p.(=)
./. - c.945T>C r.(=) p.(=)
./. - c.989+13G>A r.(=) p.(=)
./. - c.990-274T>C r.(=) p.(=)
./. - c.990-223A>C r.(=) p.(=)
./. - c.990-218A>G r.(=) p.(=)
./. - c.1122C>T r.(=) p.(=)
./. - c.1185+18_1185+24del r.(=) p.(=)
./. - c.1185+67G>A r.(=) p.(=)
./. - c.1186-46A>G r.(=) p.(=)
./. - c.1186-3T>C r.spl? p.?
./. - c.*97G>A r.(=) p.(=)
./. - c.*121C>T r.(=) p.(=)
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