Transcript #00000997 (NM_002024.5, FMR1 gene)

Transcript name transcript variant ISO1
Gene name FMR1 (fragile X mental retardation 1)
Chromosome X
Transcript - NCBI ID NM_002024.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_002015.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     
-/. - c.(-144_-16)= GGM[20] r.(?) p.(=)
-/. - c.(-144_-16)= GGM[20] r.(?) p.(=)
-/. - c.(-144_-16)ins(9) GGM[23] r.(?) p.(=)
+?/. 1 c.(-144_-16)ins(93) GGM[51] r.(?) p.(=)
+?/. - c.(-144_-16)ins(93) GGM[51] r.(?) p.(=)
?/. 1 c.-128_-69GGC[10]GGA[1]GGC[12] GGM[23]-10-1-12 r.(?) p.?
?/. 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-10-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-10-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-10-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[51]-10-1-9-1-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[13]GGA[1]GGC[9]GGA[1]GGC[9] GGM[33]-13-1-9-1-9 r.(?) p.?
-/- 1 c.-128_-69GGC[14] GGM[14]-14 r.(?) p.(=)
?/. 1 c.-128_-69GGC[16]GGA[1]GGC[9] GGM[26]-16-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[17]GGA[1]GGC[9] GGM[27]-17-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[10] GGM[31]-20-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[9] GGM[40]-20-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[21]GGA[1]GGC[20] GGM[42]-21-1-20 r.(?) p.?
?/. 1 c.-128_-69GGC[21]GGA[1]GGC[9]GGA[1]GGC[9] GGM[41]-21-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[23]GGA[1]GGC[9]GGA[1]GGC[9] GGM[43]-23-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[25]GGA[1]GGC[10] GGM[36]-25-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[25]GGA[1]GGC[9]GGA[1]GGC[9] GGM[45]-25-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[27]GGA[1]GGC[9]GGA[1]GGC[9] GGM[47]-27-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[32]GGA[1]GGC[9]GGA[1]GGC[9] GGM[52]-32-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[33]GGA[1]GGC[9]GGA[1]GGC[9] GGM[53]-33-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[37]GGA[1]GGC[7]GGA[1]GGC[9] GGM[55]-37-1-7-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[39] GGM[39]-39 r.(?) p.?
?/. 1 c.-128_-69GGC[40]GGA[1]GGC[9]GGA[1]GGC[9] GGM[60]-40-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[42]GGA[1]GGC[9]GGA[1]GGC[9] GGM[62]-42-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[43]GGA[1]GGC[9]GGA[1]GGC[9] GGM[63]-43-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[44]GGA[1]GGC[9]GGA[1]GGC[9] GGM[64]-44-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[45] GGM[45]-45 r.(?) p.?
?/. 1 c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9] GGM[65]-45-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9] GGM[65]-45-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9] GGM[65]-45-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[47]GGA[1]GGC[10] GGM[58]-47-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[47]GGA[1]GGC[9]GGA[1]GGC[9] GGM[67]-47-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[49]GGA[1]GGC[11] GGM[61]-49-1-11 r.(?) p.?
?/. 1 c.-128_-69GGC[49]GGA[1]GGC[9]GGA[1]GGC[9] GGM[69]-49-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[50]GGA[1]GGC[9]GGA[1]GGC[9] GGM[70]-50-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[51]GGA[1]GGC[9] GGM[61]-51-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[52]GGA[1]GGC[9]GGA[1]GGC[9] GGM[72]-52-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[53]GGA[1]GGC[9] GGM[63]-53-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[53]GGA[1]GGC[9]GGA[1]GGC[9] GGM[73]-53-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[54]GGA[1]GGC[9] GGM[64]-54-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[56]GGA[1]GGC[7]GGA[1]GGC[9] GGM[74]-56-1-7-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[59]GGA[1]GGC[9] GGM[69]-59-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[59]GGA[1]GGC[9]GGA[1]GGC[9] GGM[78]-59-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[60]GGA[1]GGC[9] GGM[70]-60-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[62]GGA[1]GGC[9] GGM[72]-62-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[67] GGM[67]-67 r.(?) p.?
?/. 1 c.-128_-69GGC[67]GGA[1]GGC[9] GGM[77]-67-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[68]GGA[1]GGC[9] GGM[69]-68-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[69] GGM[69]-69 r.(?) p.?
?/. 1 c.-128_-69GGC[71]GGA[1]GGC[9] GGM[81]-71-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[72]GGA[1]GGC[9]GGA[1]GGC[9] GGM[92]-72-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[73]GGA[1]GGC[9]GGA[1]GGC[9] GGM[93]-73-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[73]GGA[1]GGC[9]GGA[1]GGC[9] GGM[79]-73-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[76] GGM[76]-76 r.(?) p.?
?/. 1 c.-128_-69GGC[79]GGA[1]GGC[9] GGM[89]-79-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[86]GGA[1]GGC[7]GGA[1]GGC[9] GGM[104]-86-1-7-1-9 r.(?) p.?
-?/. 1 c.-128_-69GGC[8]GGA[1]GGC[8]GGA[1]GGC[8]GGA[1]GGC[9] GGM[36]-8-1-8-1-8-1-9 r.(?) p.(=)
?/. 1 c.-128_-69GGC[92]GGA[1]GGC[9] GGM[102]-92-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[10] GGM[20]-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[11]GGA[1]GGC[9] GGM[31]-9-1-11-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[12]GGA[1]GGC[9] GGM[32]-9-1-12-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[13] GGM[23]-9-1-13 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[14] GGM[24]-9-1-14 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10] GGM[30]-9-1-9-1-10 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.?
?/. 1 c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9] GGM[29]-9-1-9-1-9 r.(?) p.?
-?/. - c.36T>C - r.(?) p.(Asn12=)
+?/. - c.104+1G>A - r.spl? p.?
-?/. 2i c.104+61T>C - r.(?) p.(=)
-/. - c.357A>C - r.(?) p.(Lys119Asn)
-?/. - c.375T>C - r.(?) p.(Thr125=)
?/. - c.413G>A - r.(?) p.(Arg138Gln)
-/. - c.414G>A - r.(?) p.(Arg138=)
-?/. 5 c.414G>A - r.(?) p.(Arg138=)
-?/. - c.419+6T>C - r.(=) p.(=)
-?/. - c.420-8A>T - r.(=) p.(=)
?/. - c.500A>C - r.(?) p.(Gln167Pro)
-?/. - c.651G>A - r.(?) p.(Ser217=)
-?/. - c.714T>C - r.(?) p.(Gly238=)
+/? 8 c.797G>A - r.(?) p.(Gly266Glu)
+/. 8 c.801G>A - r.spl? p.(Glu267=)
+?/. - c.881-1G>T - r.spl p.?
-?/. - c.982C>G - r.(?) p.(Gln328Glu)
-/. - c.990+14C>T - r.(=) p.(=)
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