Transcript #00011445 (NM_170707.3, LMNA gene)

Transcript name transcript variant 1
Gene name LMNA (lamin A/C)
Chromosome 1
Transcript - NCBI ID NM_170707.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_733821.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1532 entries on 16 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 1 c.-31735+?_357-?del r.-31735_357del p.0
-/. _1 c.-1242T>C r.(=) p.(=)
-/. ? c.-1242T>C r.(=) p.(=)
-/. _1 c.-1214T>C r.(=) p.(=)
-/. ? c.-1214T>C r.(=) p.(=)
-/. _1 c.-845dup r.(=) p.(=)
-/. ? c.-845dup r.(=) p.(=)
+?/. _1_12_ c.(?_-249)_(*981_?)del r.0 p.0
-/. 1 c.-128T>C r.(?) p.(=)
+/. 1 c.-128T>C r.(?) p.(=)
-/. - c.-88G>T r.(?) p.(=)
?/. - c.-59G>A r.(?) p.(=)
+/. 1 c.-3_12del r.(?) p.0?
?/. 5'UTR c.-1C>A r.(?) p.(=)
+?/. - c.1A>G r.(?) p.(Met1?)
?/. 1 c.3G>T r.(?) p.0?
+?/. 1 c.3G>T r.(?) p.0?
-/. 1 c.5A>G r.(?) p.(Glu2Gly)
?/. - c.5A>T r.(?) p.(Glu2Val)
+/. - c.16C>T r.(?) p.(Gln6*)
+/. 1 c.16C>T r.(?) p.(Gln6*)
+/. 1 c.29C>T r.(?) p.(Thr10Ile)
+/. 1 c.29C>T r.(?) p.(Thr10Ile)
+/. 1 c.31del r.(?) p.(Arg11Alafs*85)
-/. - c.33C>T r.(?) p.(Arg11=)
-/. - c.42G>A r.(?) p.(Ala14=)
-/-? 1 c.51C>T r.(=) p.(=)
-/. - c.51C>T r.(?) p.(Ser17=)
+?/. 1 c.51C>T r.(?) p.(=)
-/. - c.51C>T r.(?) p.(Ser17=)
-/. - c.51C>T r.(?) p.(Ser17=)
-/. 1 c.51C>T r.(?) p.(=)
-/. - c.51C>T r.(?) p.(Ser17=)
-/. 1 c.51C>T r.51c>u p.(=)
-/. 1 c.51C>T r.(?) p.(=)
+?/. - c.64T>G r.(?) p.(Ser22Ala)
+/. 1 c.65C>T r.(?) p.(Ser22Leu)
+/. 1 c.65_66delinsT r.(?) p.(Ser22Phefs*74)
+?/. 1 c.71C>G r.(?) p.(Thr24Ser)
+?/. 1 c.71C>G r.(?) p.(Thr24Ser)
?/. - c.71C>T r.(?) p.(Thr24Ile)
?/. - c.71C>T r.(?) p.(Thr24Ile)
-/. - c.73C>A r.(?) p.(Arg25Ser)
?/. - c.73C>G r.(?) p.(Arg25Gly)
+/. 1 c.73C>G r.(?) p.(Arg25Gly)
+?/. 1 c.73C>T r.(?) p.(Arg25Cys)
?/. - c.73C>T r.(?) p.(Arg25Cys)
+/. 1 c.74C>G - p.Arg25Pro
?/. - c.74del r.(?) p.(Arg25ProfsTer71)
+/. - c.74G>C r.(?) p.(Arg25Pro)
+/. 1 c.74G>C r.(?) p.(Arg25Pro)
-?/. - c.75C>G r.(?) p.(Arg25=)
+?/. - c.77del r.(?) p.(Ile26ThrfsTer70)
?/. 1 c.77T>G r.(?) p.(Ile26Ser)
-?/. - c.78C>T r.(?) p.(Ile26=)
+/. 1 c.80C>T r.(?) p.(Thr27Ile)
+/. 1 c.82C>G r.(?) p.(Arg28Trp)
+/. 1 c.82C>T r.(?) p.(Arg28Trp)
+/. 1 c.82C>T r.(?) p.(Arg28Trp)
+/. 1 c.82C>T r.(?) p.(Arg28Trp)
+/. 1 c.83G>A r.(?) p.(Arg28Gln)
+/. 1 c.83G>A r.(?) p.(Arg28Gln)
?/. 1 c.83G>A r.(?) p.(Arg28Gln)
?/. 1 c.83G>A r.(?) p.(Arg28Gln)
+/. 1 c.91G>A r.(?) p.(Glu31Lys)
+/. 1 c.91_93del r.(?) p.(Glu31del)
+/. 1 c.94A>G r.(?) p.(Lys32Glu)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. - c.94_96del r.(?) p.(Lys32del)
+/. - c.94_96del r.(?) p.(Lys32del)
+/. - c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.94_96del r.(?) p.(Lys32del)
+/. 1 c.95A>C r.(?) p.(Lys32Thr)
+/. 1 c.96G>T r.(?) p.(Lys32Asn)
+/. 1 c.98A>G r.(?) p.Glu33Gly
+?/. 1 c.99G>C r.(?) p.(Glu33Asp)
+/. - c.99G>T r.(?) p.(Glu33Asp)
+/. 1 c.99G>T r.(?) p.(Glu33Asp)
+/. 1 c.99_101del r.(?) p.(Glu33del)
?/. 1 c.100G>A r.(?) p.(Asp34Asn)
+/. 1 c.103C>G r.(?) p.(Leu35Val)
?/. 1 c.111G>A r.(?) p.(=)
+/. 1 c.115A>G r.(?) p.(Asn39Asp)
+?/. - c.116A>G r.(?) p.(Asn39Ser)
+/. 1 c.116A>G r.(?) p.(Asn39Ser)
+/. 1 c.116A>G r.(?) p.(Asn39Ser)
+/. 1 c.116A>G r.(?) p.(Asn39Ser)
+/. 1 c.116A>G r.(?) p.(Asn39Ser)
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