Transcript #00010949 (NM_002293.3, LAMC1 gene)

Transcript name laminin, gamma 1 (formerly LAMB2)
Gene name LAMC1 (laminin, gamma 1 (formerly LAMB2))
Chromosome 1
Transcript - NCBI ID NM_002293.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_002284.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

64 entries on 1 page. Showing entries 1 - 64.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.? r.? P.?
?/. - c.220G>A r.(?) p.(Glu74Lys)
-?/. - c.418+8G>A r.(=) p.(=)
?/. - c.467G>A r.(?) p.(Arg156His)
-?/. 2 c.546T>C r.(=) p.(=)
-?/. 2 c.657C>T r.(=) p.(=)
-?/. 2 c.690C>T r.(=) p.(=)
?/. - c.707A>G r.(?) p.(Asn236Ser)
-?/. 3i c.854+74C>T r.(=) p.(=)
?/. - c.923A>G r.(?) p.(Lys308Arg)
?/. - c.961C>T r.(?) p.(Pro321Ser)
?/. - c.961C>T r.(?) p.(Pro321Ser)
?/. - c.1207G>C r.(?) p.(Val403Leu)
-?/. 5i c.1211-48A>G r.(=) p.(=)
-?/. 5i c.1211-47C>A r.(=) p.(=)
-?/. 6 c.1242C>A r.(=) p.(=)
+/. - c.1427+1G>C r.spl p.?
-?/. - c.1427+8A>G r.(=) p.(=)
-?/. - c.1468C>T r.(?) p.(Arg490Trp)
-/. - c.1596T>G r.(?) p.(Asp532Glu)
-/. - c.1669C>T r.(?) p.(Arg557Trp)
-?/. - c.1689A>G r.(?) p.(Ala563=)
-?/. - c.1713G>A r.(?) p.(Leu571=)
-?/. - c.1719T>C r.(?) p.(Tyr573=)
-?/. 10 c.1776A>C r.(=) p.(=)
-?/. - c.2173G>A r.(?) p.(Ala725Thr)
?/. - c.2173G>A r.(?) p.(Ala725Thr)
?/. - c.2180A>G r.(?) p.(Asn727Ser)
+/? 13 c.2237C>T r.(?) p.(Thr746Met)
-?/. - c.2402-4C>T r.spl? p.?
-?/. - c.2547C>T r.(?) p.(Cys849=)
-?/. - c.2553G>A r.(?) p.(Lys851=)
-?/. - c.2654A>G r.(?) p.(Asn885Ser)
-?/. 15 c.2663T>C r.(?) p.(Leu888Pro)
-?/. - c.2761C>G r.(?) p.(Pro921Ala)
-/. - c.2944+6G>A r.(=) p.(=)
-?/. 16i c.2944+80G>A r.(=) p.(=)
-?/. 16i c.2945-104_2945-103insATA r.(=) p.(=)
-?/. - c.3018C>G r.(?) p.(Gly1006=)
?/. - c.3032G>A r.(?) p.(Arg1011His)
-?/. 17i c.3123+43T>C r.(=) p.(=)
-?/. 17i c.3123+95G>A r.(=) p.(=)
?/. - c.3190G>A r.(?) p.(Glu1064Lys)
?/. - c.3361C>T r.(?) p.(Arg1121Trp)
-?/. 19 c.3362G>A r.(?) p.(Arg1121Gln)
-?/. 19 c.3459G>A r.(=) p.(=)
-?/. - c.3459G>A r.(?) p.(Glu1153=)
-?/. 19 c.3480C>T r.(=) p.(=)
-?/. 19i c.3486+17G>A r.(=) p.(=)
-?/. 20i c.3567-81_3567-79del r.(=) p.(=)
?/. - c.3631G>A r.(?) p.(Ala1211Thr)
-?/. - c.3636C>T r.(?) p.(Tyr1212=)
-?/. - c.3780C>G r.(?) p.(Ala1260=)
-?/. - c.3796G>A r.(?) p.(Glu1266Lys)
+/. - c.3850-1G>A r.spl p.?
-?/. 23i c.3999+61_3999+66del r.(=) p.(=)
-?/. 25 c.4300A>G r.(?) p.(Ser1434Gly)
-?/. 25i c.4314+50C>T r.(=) p.(=)
?/. - c.4331A>C r.(?) p.(Lys1444Thr)
-?/. 26 c.4369C>T r.(=) p.(=)
-?/. 26i c.4474-160_4474-156del r.(=) p.(=)
-?/. - c.4573+4C>T r.spl? p.?
-?/. - c.4737C>T r.(?) p.(Ile1579=)
-?/. 27 c.*2840_*2841del r.(=) p.(=)
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