Transcript #00009866 (NM_000618.3, IGF1 gene)

Transcript name transcript variant 4
Gene name IGF1 (insulin-like growth factor 1 (somatomedin C))
Chromosome 12
Transcript - NCBI ID NM_000618.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000609.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

21 entries on 1 page. Showing entries 1 - 21.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_6_ c.0 r.0 p.0
-/. - c.64-23C>A r.(=) p.(=)
-?/. 3 c.207G>A r.207g>a p.Arg69=
-?/. - c.207G>A r.(?) p.(Arg69=)
+/. 3i_5i c.(220+1_221-1)_(402+1_403-1)del r.221_402del p.Asn74Argfs*9
+/. 4 c.243_246dup r.(?) p.(Ser83Glnfs*13)
?/. 4 c.251G>A r.(?) p.(Arg84Gln)
+/. 4 c.274G>A r.274a>g p.Val92Met
+/. 4 c.274G>A r.(?) p.(Val92Met)
+/. 4 c.274G>A r.(?) p.(Val92Met)
+/. 4 c.274G>A r.(?) p.Val92Met
+/. - c.285C>A r.(?) p.(Cys95Ter)
+/? 4 c.292C>T r.(?) p.(Arg98Trp)
?/. - c.300T>G r.(?) p.(Cys100Trp)
-?/. - c.340C>G r.(?) p.(Pro114Ala)
?/. - c.352G>A r.(?) p.(Ala118Thr)
?/. - c.356G>A r.(?) p.(Arg119His)
-?/. - c.356G>A r.(?) p.(Arg119His)
+/. 4i c.402+1G>T - p.Asn74Argfs*9
+/. - c.402+1505G>C r.(=) p.(=)
+/. 6 c.*263T>A r.423_*6640delins[chr17:g.137559893_137560131] p.Ser142fs
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