Transcript #00000483 (NM_001110556.1, FLNA gene)

Transcript name transcript variant 2
Gene name FLNA (filamin A, alpha)
Chromosome X
Transcript - NCBI ID NM_001110556.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001104026.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

804 entries on 9 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. 12 c.? r.? p.?
?/. 32 c.? r.? p.?
./. - c.-1119672_*11376dup - -
./. - c.-258351_*6809dup r.0? p.0?
+/. _1_26i c.(?_-24136)_(4474+11_?)dup r.(?) p.?
./. - c.-7149_*866411dup r.0? p.0?
-?/. - c.-5186C>T r.(?) p.(=)
-?/. - c.-5174C>A r.(?) p.(=)
?/. - c.-5158C>G r.(?) p.(=)
-/. - c.-5153C>A r.(?) p.(=)
-?/. - c.-5117G>C r.(?) p.(=)
+/. _1i_13i_ c.(-5087_-116-1)_(2022+1_2137-1)del r.0? p.0?
+/. _1_48_ c.(?_-249)_(*317_?)dup r.? p.?
-/. _1_48_ c.(?_-249)_(*317_?)inv r.(=) p.(=)
-?/. - c.-116-13G>C r.(=) p.(=)
-?/. - c.-116-5C>T r.spl? p.?
-?/. - c.13C>T r.(?) p.(His5Tyr)
?/. - c.62_64dup r.(?) p.(Val21dup)
-/. - c.62_64dup r.(?) p.(Val21dup)
-?/. - c.62_64dup r.(?) p.(Val21dup)
-?/. - c.62_64dup r.(?) p.(Val21dup)
-?/. - c.63C>T r.(?) p.(Val21=)
./. - c.64_66dup r.(?) p.(Asp22dup)
-?/. - c.65A>T r.(?) p.(Asp22Val)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
+/. 2 c.67_68del r.(?) p.(Thr23Alafs*82)
?/. - c.70C>T r.(?) p.(Arg24Trp)
?/. - c.77C>T r.(?) p.(Ala26Val)
?/. - c.81G>T r.(?) p.(Glu27Asp)
?/. - c.83T>C r.(?) p.(Met28Thr)
?/. - c.85C>A r.(?) p.(Pro29Thr)
?/. - c.85C>G r.(?) p.(Pro29Ala)
?/. - c.85_86insTA r.(?) p.(Pro29LeufsTer30)
?/. - c.88G>A r.(?) p.(Ala30Thr)
?/. - c.89_90insGAC r.(?) p.(Thr31dup)
+/. 2 c.116C>G r.(?) p.(Ala39Gly)
?/. - c.152G>C r.(?) p.(Arg51Pro)
+/. - c.169del r.(?) p.(Leu57Ter)
-?/. - c.237G>C r.(?) p.(Ala79=)
-?/. - c.237G>C r.(?) p.(Ala79=)
+/. - c.238C>G r.(?) p.(Leu80Val)
+?/. 2 c.238C>G r.(?) p.(Leu80Val)
+/. 2 c.245A>T r.(?) p.(Glu82Val)
+/. 2 c.245A>T r.(?) p.(Glu82Val)
+/. 2 c.245A>T r.(?) p.(Glu82Val)
+/. 2 c.245A>T r.(?) p.(Glu82Val)
+/. 2 c.287_291del r.(?) p.(Arg96Hisfs*8)
+/. - c.306G>A r.(?) p.(Met102Ile)
+/. 2 c.356T>A r.(?) p.(Ile119Asn)
+/. 2 c.365T>G r.(?) p.(Val122Gly)
+/. 2 c.365T>G r.(?) p.(Val122Gly)
+/. 2 c.368C>A r.(?) p.(Ser123Tyr)
+/. 2i c.373+1G>A r.spl? p.?
-/. - c.374-19G>A r.(=) p.(=)
-/. - c.374-19G>A r.(=) p.(=)
+?/. 3 c.381G>C r.(?) p.(Lys127Asn)
+?/. 3 c.381G>C r.(?) p.(Lys127Asn)
+/. 3 c.381G>C r.(?) p.(Lys127Asn)
+/. 3 c.383C>T r.(?) p.(Ala128Val)
+/. 3 c.383C>T r.(?) p.(Ala128Val)
+/. 3 c.383C>T r.(?) p.(Ala128Val)
+/. 3 c.387C>G r.(?) p.(Ile129Met)
-?/. - c.387C>T r.(?) p.(Ile129=)
?/. - c.394G>A r.(?) p.(Gly132Arg)
+?/. - c.394G>A r.(?) p.(Gly132Arg)
+/. 3 c.508C>T r.(?) p.(Gln170*)
+/. 3 c.509A>C r.(?) p.(Gln170Pro)
+/. 3 c.514C>T r.(?) p.(Leu172Phe)
-?/. - c.543G>A r.(?) p.(Pro181=)
-?/. - c.543G>A r.(?) p.(Pro181=)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
+/. 3 c.544C>T r.(?) p.(Gln182*)
-?/. - c.546G>C r.(?) p.(Gln182His)
+?/. 3 c.560A>G r.(?) p.(Asn187Ser)
+/. 3 c.586C>G r.(?) p.(Arg196Gly)
?/. - c.586C>T r.(?) p.(Arg196Trp)
+/. 3 c.586C>T r.(?) p.(Arg196Trp)
+/. 3 c.598G>T r.(?) p.(Ala200Ser)
+/. 3 c.607G>T r.(?) p.(Asp203Tyr)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3 c.620C>T r.(?) p.(Pro207Leu)
+/. 3i c.623-3C>G r.spl? p.?
+/. 4 c.629G>T r.(?) p.(Cys210Phe)
+/. 4 c.629G>T r.(?) p.(Cys210Phe)
+/. 4 c.629G>T r.(?) p.(Cys210Phe)
+/. - c.648G>A r.(?) p.(Trp216Ter)
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