Transcript #00010945

Transcript name laminin, beta 2 (laminin S)
Gene name LAMB2 (laminin, beta 2 (laminin S))
Chromosome 3
Transcript - NCBI ID NM_002292.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002283.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

177 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     
?/? 1 c.-1925G>C VUS r.(?) p.(=) -
?/? 1 c.-408_-404delTAGTT VUS r.(?) p.(=) -
?/? 1 c.-165C>A VUS r.(?) p.(=) -
+?/? 1_32 c.? likely pathogenic r.(?) p.? -
+/. - c.55C>T pathogenic r.(?) p.(Arg19*) -
?/? 2 c.109C>G VUS r.(?) p.(Pro37Ala) -
+/? 2 c.235_237del pathogenic r.(?) p.(Val79del) -
+/? 2 c.235_237del pathogenic r.(?) p.(Val79del) -
+/? 2 c.235_237del pathogenic r.(?) p.(Val79del) -
+/? 2 c.240T>G pathogenic r.(?) p.(Ser80Arg) -
+/? 2 c.240T>G pathogenic r.(?) p.(Ser80Arg) -
-/? 3i c.250-97A>G benign r.(=) p.(=) -
-/. - c.261G>A benign r.(?) p.(=) -
-/. - c.261G>A benign r.(?) p.(=) -
+?/. 4 c.280C>T - r.(?) p.(Arg94Trp) -
-/? 3 c.306C>T benign r.(?) p.(=) -
-/. - c.306C>T benign r.(?) p.(=) -
-/. - c.306C>T benign r.(?) p.(=) -
+/? 3 c.373C>T pathogenic r.(?) p.(Gln125*) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.416T>C pathogenic r.(?) p.(Leu139Pro) -
+/? 4 c.447_449del pathogenic r.(?) p.(Ile149del) -
+/? 5 c.499G>T pathogenic r.(?) p.(Asp167Tyr) -
+/? 5 c.499G>T pathogenic r.(?) p.(Asp167Tyr) -
-/. - c.510C>T benign r.(?) p.(=) -
+/? 5 c.536C>T pathogenic r.(?) p.(Ser179Phe) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.736C>T pathogenic r.(?) p.(Arg246Trp) -
+/? 7 c.737G>A pathogenic r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A pathogenic r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A pathogenic r.(?) p.(Arg246Gln) -
+/? 7 c.737G>A pathogenic r.(?) p.(Arg246Gln) -
+/? 7 c.825T>A pathogenic r.(?) p.(Tyr275*) -
+/? 7 c.825T>A pathogenic r.(?) p.(Tyr275*) -
+/? 8 c.961T>C pathogenic r.(?) p.(Cys321Arg) -
+/? 8 c.961T>C pathogenic r.(?) p.(Cys321Arg) -
-/? 8 c.1014C>T benign r.(?) p.(=) -
+/? 8i c.1036+6_1036+9delTGAG pathogenic r.spl? p.? -
+/? 8i c.1036+6_1036+9delTGAG pathogenic r.spl? p.? -
+/? 9 c.1122T>A pathogenic r.(?) p.(Cys374*) -
+/? 9 c.1122T>A pathogenic r.(?) p.(Cys374*) -
?/? 9 c.1193C>T VUS r.(?) p.(Thr398Ile) -
?/. - c.1205G>A VUS r.(?) p.(Arg402Gln) -
+/? 10 c.1241_1242dup pathogenic r.(?) p.(Met415Profs*83) -
+/? 10 c.1252C>T pathogenic r.(?) p.(Gln418*) -
?/? 10 c.1403G>T VUS r.(?) p.(Arg468Leu) -
+/? 10i c.1405+1G>A pathogenic r.spl? p.(=) -
+/? 10i c.1405+1G>A pathogenic r.spl? p.(=) -
+/? 10i c.1405+1G>A pathogenic r.spl? p.(=) -
+/? 11 c.1477del pathogenic r.(?) p.(Cys493Alafs*4) -
+/? 11 c.1477del pathogenic r.(?) p.(Cys493Alafs*4) -
+/? 11 c.1478del pathogenic r.(?) p.(Cys493Serfs*4) -
+/? 11 c.1503_1504del pathogenic r.(?) p.(Cys502*) -
+/? 13 c.1723C>T pathogenic r.(?) p.(Arg575*) -
+/? 13 c.1723C>T pathogenic r.(?) p.(Arg575*) -
?/? 13 c.1724G>A VUS r.(?) p.(Arg575Gln) -
-?/. - c.1724G>A likely benign r.(?) p.(Arg575Gln) -
-/. - c.1764C>T benign r.(?) p.(=) -
-/? 14 c.1764C>T benign r.(?) p.(=) -
./. - c.1862A>G - r.(?) p.(Tyr621Cys) -
+/? 14 c.1875_1879del pathogenic r.(?) p.(Leu627Alafs*5) -
-/? 14i c.1890+25G>A benign r.(=) p.(=) -
+/. - c.2022C>G pathogenic r.(?) p.(Tyr674*) -
-/? 16 c.2034T>C benign r.(?) p.(=) -
+/? 16 c.2067C>G pathogenic r.(?) p.(Tyr689*) -
+/? 16 c.2067C>G pathogenic r.(?) p.(Tyr689*) -
?/? 16 c.2099G>A VUS r.(?) p.(Gly700Glu) -
+/? 17 c.2283_2286del pathogenic r.(?) p.(Ser762Argfs*29) -
-/? 17 c.2307C>T benign r.(?) p.(=) -
+/? 18 c.2422del pathogenic r.(?) p.(Val808Trpfs*343) -
+/? 18 c.2422del pathogenic r.(?) p.(Val808Trpfs*343) -
-?/. - c.2459A>T likely benign r.(?) p.(Tyr820Phe) -
-/? 18i c.2489-62C>T benign r.(=) p.(=) -
+/? 19 c.2602C>T pathogenic r.(?) p.(Gln868*) -
?/? 19 c.2644C>T VUS r.(?) p.(His882Tyr) -
-/? 19 c.2673C>T benign r.(?) p.(=) -
-/. - c.2673C>T benign r.(?) p.(=) -
-/? 20 c.2740G>A benign r.(?) p.(Gly914Arg) -
-/. - c.2740G>A benign r.(?) p.(Gly914Arg) -
-/? 20 c.2754G>T benign r.(?) p.(=) -
-/. - c.2959G>A benign r.(?) p.(Glu987Lys) -
-/? 21 c.2959G>A benign r.(?) p.(Glu987Lys) -
+/? 21 c.3015del pathogenic r.(?) p.(Gln1006Asnfs*145) -
+/? 21 c.3015del pathogenic r.(?) p.(Gln1006Asnfs*145) -
+/? 21 c.3015dup pathogenic r.(?) p.(Gln1006Alafs*49) -
+/? 21 c.3094C>T pathogenic r.(?) p.(Arg1032*) -
+/? 21 c.3094C>T pathogenic r.(?) p.(Arg1032*) -
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