Transcript #00025249 (NM_001159702.2, FHL1 gene)

Transcript name transcript variant 1
Gene name FHL1 (four and a half LIM domains 1)
Chromosome X
Transcript - NCBI ID NM_001159702.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001153174.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.(?_888+214)_(*1655_?)del r.? p.?
-?/. 1i c.-100-378dup r.(=) p.(=)
-?/. 1i c.-100-378dup r.(=) p.(=)
-?/. 1i c.-100-378dup r.(=) p.(=)
-?/. 1i c.-100-378dup r.(=) p.(=)
-?/. 2i c.-27+95del r.(=) p.(=)
-?/. 2i c.-27+95del r.(=) p.(=)
-?/. 2i c.-27+97del r.(=) p.(=)
-?/. 2i c.-27+97del r.(=) p.(=)
-/. - c.-26-9615C>G r.(=) p.(=)
-?/. - c.-26-9586T>C r.(=) p.(=)
?/. - c.-26-9580G>C r.(=) p.(=)
?/. - c.-26-9544G>T r.(=) p.(=)
-?/. - c.-26-5C>T r.spl? p.?
?/. - c.-26-5C>T r.spl? p.?
-?/. - c.-26-5C>T r.spl? p.?
-/. - c.-26-5C>T r.spl? p.?
+/. _1_8_ c.0 r.0 p.0
?/. 3 c.5C>T r.(?) p.(Ala2Val)
?/. 3 c.5C>T r.(?) p.(Ala2Val)
?/. 3 c.5C>T r.(?) p.(Ala2Val)
-?/. - c.22_25del r.(?) p.(His8ThrfsTer21)
?/. - c.65A>C r.(?) p.(Lys22Thr)
?/. - c.113A>G r.(?) p.(Asn38Ser)
?/. 3 c.113A>G r.(?) p.(Asn38Ser)
?/. - c.113A>G r.(?) p.(Asn38Ser)
?/. - c.119G>A r.(?) p.(Cys40Tyr)
?/. - c.142G>A r.(?) p.(Gly48Ser)
-?/. - c.156+5C>T r.spl? p.?
-/. - c.156+5C>T r.spl? p.?
-/. - c.156+5C>T r.spl? p.?
-/. - c.156+5C>T r.spl? p.?
-/. - c.156+5C>T r.spl? p.?
-?/. - c.156+14C>G r.(=) p.(=)
-/. - c.156+14C>G r.(=) p.(=)
+/. - c.161dup r.(?) p.(His55Alafs*3)
-?/. - c.195C>T r.(?) p.(Cys65=)
?/. - c.199C>T r.(?) p.(Arg67Cys)
?/. - c.199C>T r.(?) p.(Arg67Cys)
?/. - c.211T>A r.(?) p.(Cys71Ser)
+/. 4 c.213C>A r.(?) p.(Cys71*)
-?/. - c.220C>T r.(?) p.(Pro74Ser)
?/. - c.221C>G r.(?) p.(Pro74Arg)
?/. 4 c.254A>G r.(?) p.(Asn85Ser)
?/. - c.280A>G r.(?) p.(Thr94Ala)
+/. 4 c.302G>T r.(?) p.(Cys101Phe)
+/. 4 c.304_312del r.(?) p.(Lys102_Cys104del)
?/. 4 c.308G>T r.(?) p.(Gly103Val)
+/. 4 c.310T>C r.(?) p.(Cys104Arg)
+/. 4 c.310T>C r.(?) p.(Cys104Arg)
+/. - c.331G>T r.(?) p.(Gly111*)
?/. - c.331+4C>T r.spl? p.?
+/. 4i_6i c.332-?_688+?del r.(ex05ex06del) p.(del?)
?/. - c.343G>T r.(?) p.(Val115Leu)
?/. 5 c.356G>T NM_001449.4 p.(Gly119Val)
?/. 5 c.361G>A r.(?) p.(Val121Ile)
?/. 5 c.361G>A r.(?) p.(Val121Ile)
+/. 5 c.365G>C r.(?) p.(Trp122Ser)
+/. 5 c.365G>C r.(?) p.(Trp122Ser)
?/. 5 c.366G>C r.(?) p.(Trp122Cys)
+/. 5 c.367C>T r.367c>u p.His123Tyr
+/. 5 c.367C>T r.367c>u p.His123Tyr
+/. 5 c.371_372del r.(?) p.(Lys124Argfs*6)
?/. 5 c.374A>G r.(?) p.(Asp125Gly)
+/. 5 c.380_382dup r.(?) p.(Phe127_Thr128insIle)
?/. - c.395G>T r.(?) p.(Cys132Phe)
+/. 5 c.395G>T r.395g>u p.Cys132Phe
+/. 5 c.395G>T r.395g>u p.Cys132Phe
-/. - c.441C>T r.(?) p.(Asp147=)
-/. - c.441C>T r.(?) p.(Asp147=)
-?/. 5 c.441C>T r.(?) p.(=)
-?/. - c.441C>T r.(?) p.(Asp147=)
-/. - c.441C>T r.(?) p.(Asp147=)
?/. 5 c.446_448del r.(?) p.(Tyr149del)
?/. 5 c.446_448del r.(?) p.(Tyr149del)
+/. 5 c.449G>A r.(?) p.(Cys150Tyr)
-/. - c.450C>T r.(?) p.(Cys150=)
+/. 5 c.457T>C r.457u>c p.Cys153Arg
+/. 5 c.457T>C r.457u>c p.Cys153Arg
+/. 5 c.458G>A r.(?) p.(Cys153Tyr)
+/. 5 c.458G>A r.458g>a p.Cys153Tyr
+/. 5 c.458G>A r.458g>a p.Cys153Tyr
+?/. 5 c.461A>C r.(?) p.(His154Pro)
+/. 5 c.469_470del r.(?) p.(Lys157Valfs*36)
?/. 5 c.486C>G r.(?) p.(Cys162Trp)
-/. - c.486C>T r.(?) p.(Cys162=)
?/. - c.488T>G r.(?) p.(Val163Gly)
-?/. 5i c.501+130G>A r.(=) p.(=)
-?/. 5i c.501+130G>A r.(=) p.(=)
+/. 5i_6i c.502-20_688+395delins(84) r.502_888del p.Ala168_Pro296del
+/. 5i c.502-2A>T r.502_888del p.Ala168_Pro296del
?/. - c.503C>T r.(?) p.(Ala168Val)
?/. - c.523A>C r.(?) p.(Thr175Pro)
+/. 6 c.546T>A r.(?) p.(His182Gln)
+?/. - c.546T>A r.(?) p.(His182Gln)
?/. - c.556T>C r.(?) p.(Phe186Leu)
?/. - c.563G>T r.(?) p.(Cys188Phe)
?/. - c.563G>T r.(?) p.(Cys188Phe)
+?/. - c.581del r.(?) p.(Lys194SerfsTer44)
?/. 6 c.596G>A NM_001449.4 p.(Arg199His)
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