Transcript #00003231

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 -
Remarks -


Variants

60 entries on 1 page. Showing entries 1 - 60.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.16C>T p.(Gln6*) stop_gained - 1/10 - r.(?) -
-/- c.51C>T p.(=) synonymous_variant - 1/10 - r.(=) -
+?/+? c.154C>G p.(Leu52Val) missense_variant - 1/10 probably_damaging(0.99) r.(?) deleterious(0.01)
+/+ c.178C>G p.(Arg60Gly) missense_variant - 1/10 benign(0.168) r.(?) tolerated(0.19)
+/+ c.254T>G p.(Leu85Arg) missense_variant - 1/10 probably_damaging(0.999) r.(?) deleterious(0)
+?/+? c.266G>A p.(Arg89His) missense_variant - 1/10 probably_damaging(0.993) r.(?) deleterious(0)
+?/+? c.266G>T p.(Arg89Leu) missense_variant - 1/10 probably_damaging(1) r.(?) deleterious(0)
+?/+? c.289A>G p.(Lys97Glu) missense_variant - 1/10 possibly_damaging(0.729) r.(?) deleterious(0.04)
./. c.348_349insGA p.(Lys117Glufs*12) frameshift_variant - 1/10 - r.(?) -
+?/+? c.427T>C p.(Ser143Pro) missense_variant - 2/12 probably_damaging(0.978) r.(?) deleterious(0.03)
+?/+? c.448A>C p.(Thr150Pro) missense_variant - 2/12 probably_damaging(0.995) r.(?) deleterious(0)
+/+ c.481G>A p.(Glu161Lys) missense_variant - 2/12 possibly_damaging(0.625) r.(?) tolerated(0.07)
+?/+? c.485T>C p.(Leu162Pro) missense_variant - 2/12 possibly_damaging(0.797) r.(?) deleterious(0.01)
+?/+? c.513+1G>C p.? splice_donor_variant - - - r.spl? -
+?/+? c.568C>T p.(Arg190Trp) missense_variant - 3/12 possibly_damaging(0.908) r.(?) deleterious(0)
+?/+? c.575A>G p.(Asp192Gly) missense_variant - 3/12 probably_damaging(0.998) r.(?) deleterious(0.02)
+?/+? c.575A>T p.(Asp192Val) missense_variant - 3/12 probably_damaging(0.999) r.(?) deleterious(0)
+/+ c.585C>A p.(Asn195Lys) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.585C>G p.(Asn195Lys) missense_variant - 3/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.607G>A p.(Glu203Lys) missense_variant - 3/12 possibly_damaging(0.679) r.(?) deleterious(0.03)
+/+ c.608A>G p.(Glu203Gly) missense_variant - 3/12 probably_damaging(0.988) r.(?) deleterious(0)
+/+ c.608A>T p.(Glu203Val) missense_variant - 3/12 probably_damaging(0.992) r.(?) deleterious(0)
+?/+? c.629T>G p.(Ile210Ser) missense_variant - 3/12 probably_damaging(0.93) r.(?) deleterious(0)
+/+ c.644T>C p.(Leu215Pro) missense_variant - 4/12 probably_damaging(0.968) r.(?) deleterious(0)
+/+ c.673C>T p.(Arg225*) stop_gained - 4/12 - r.(?) -
+?/+? c.700C>T p.(Gln234*) stop_gained - 4/12 - r.(?) -
+?/+? c.749C>T p.(Ala250Val) missense_variant - 4/12 benign(0.102) r.(?) tolerated(0.26)
?/? c.762del p.(Gln255Argfs*225) - - - - r.(?) -
+?/+? c.781_783del p.(Lys261del) - - - - r.(?) -
+?/+? c.784G>T p.(Glu262*) stop_gained - 4/12 - r.(?) -
+/+ c.799T>C p.(Tyr267His) missense_variant - 4/12 probably_damaging(0.99) r.(?) deleterious(0)
+?/+? c.863C>G p.(Ala288Gly) missense_variant - 5/12 benign(0.073) r.(?) deleterious(0)
+?/+? c.949G>A p.(Glu317Lys) missense_variant - 6/12 probably_damaging(0.98) r.(?) deleterious(0.01)
+/+ c.958del p.(Leu320Phefs*160) - - - - r.(?) -
+/+ c.959del p.(Arg321Glufs*159) - - - - r.(?) -
+/+ c.961C>T p.(Arg321*) stop_gained - 6/12 - r.(?) -
+?/+? c.976T>A p.(Ser326Thr) missense_variant - 6/12 benign(0.004) r.(?) tolerated(0.95)
+?/+? c.992G>A p.(Arg331Gln) missense_variant - 6/12 probably_damaging(0.979) r.(?) deleterious(0.05)
+?/+? c.992G>C p.(Arg331Pro) missense_variant - 6/12 probably_damaging(0.996) r.(?) deleterious(0)
+?/+? c.1003C>T p.(Arg335Trp) missense_variant - 6/12 probably_damaging(0.997) r.(?) deleterious(0)
+?/+? c.1106T>C p.(Leu369Pro) missense_variant - 6/12 probably_damaging(1) r.(?) deleterious(0)
?/? c.1111_1112insTGGA p.(Glu372Aspfs*55) frameshift_variant - 6/12 - r.(?) -
+?/+? c.1111_1125del p.(Met371_Ala375del) - - - - r.(?) -
+?/+? c.1129C>T p.(Arg377Cys) missense_variant - 6/12 probably_damaging(1) r.(?) deleterious(0)
+/+ c.1130G>A p.(Arg377His) missense_variant - 6/12 probably_damaging(0.969) r.(?) deleterious(0.03)
+/+ c.1130G>T p.(Arg377Leu) missense_variant - 6/12 probably_damaging(0.999) r.(?) deleterious(0.03)
+?/+? c.1146C>T p.(=) synonymous_variant - 6/12 - r.(=) -
-?/-? c.1157+16G>A p.(=) - - - - r.(=) -
./. c.1311C>T - - - - - - -
+?/+? c.1412G>A p.(Arg471His) missense_variant - 8/12 probably_damaging(0.996) r.(?) deleterious(0)
+?/+? c.1442A>G p.(Tyr481Cys) missense_variant - 8/12 probably_damaging(0.994) r.(?) deleterious(0)
+/+ c.1445G>A p.(Arg482Gln) missense_variant - 8/12 benign(0.01) r.(?) deleterious(0.04)
+/+ c.1445G>T p.(Arg482Leu) missense_variant - 8/12 benign(0.187) r.(?) deleterious(0.01)
./. c.1490T>C - - - - - - -
+?/+? c.1621C>A p.(Arg541Ser) missense_variant - 10/12 probably_damaging(0.959) r.(?) deleterious(0.01)
+?/+? c.1621C>G p.(Arg541Gly) missense_variant - 10/12 probably_damaging(0.995) r.(?) deleterious(0)
+?/+? c.1621C>T p.(Arg541Cys) missense_variant - 10/12 probably_damaging(0.998) r.(?) deleterious(0)
+/+ c.1698+13C>A p.(=) - - - - r.(=) -
+/+ c.1698+13C>T p.(=) - - - - r.(=) -
+/+ c.1718C>T p.(Ser573Leu) missense_variant - 11/12 benign(0.178) r.(?) tolerated(0.09)
Legend