Transcript #00002763

Transcript name transcript variant 2
Gene name ARG1 (arginase, liver)
Chromosome 6
Transcript - NCBI ID NM_000045.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000036.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

40 entries on 1 page. Showing entries 1 - 40.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. 1 c.32T>C - r.(?) p.(ile11Thr)
+?/. 1 c.32T>C - r.(?) p.(ile11Thr)
+?/. 1 c.32T>C - r.(?) p.(ile11Thr)
+/. 1i c.57+1G>A - r.spl? p.?
+/. 1i c.57+1G>A - r.spl? p.?
+/. 1i c.57+1G>A - r.spl? p.?
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
+/. 2 c.61C>T - r.(spl?) p.(Arg21*)
-/. 2 c.62G>A - r.(?) p.(Arg21Gln )
+/. 2 c.78delA - r.(?) p.fsX
+/. 3 c.266_269del - r.(?) p.fsX
-/. - c.270C>T benign r.(=) p.(=)
-/. - c.270C>T benign r.(=) p.(=)
-/. 3 c.270C>T - r.(?) p.(=)
-/. 3 c.270C>T - r.(?) p.(=)
-/. - c.270C>T benign r.(=) p.(=)
-/. - c.270C>T benign r.(=) p.(=)
+/. 4 c.365G>A - r.(?) p.(Trp122*)
+/. 4 c.413G>T - r.(?) p.(Gly138Val)
-/. 5i c.466-31A>C - r.(?) p.(=)
+/. 4i c.466-2A>G - r.spl? p.?
+/. 4i c.466-2A>G - r.spl? p.?
+/. 7 c.703G>C - r.(?) p.(Gly235Arg)
+/. 7 c.703G>C - r.(?) p.(Gly235Arg)
+/. 7 c.703G>C - r.(?) p.(Gly235Arg)
+/. 7 c.703G>C - r.(?) p.(Gly235Arg)
+/. 7 c.703G>C - r.(?) p.(Gly235Arg)
+/. 8 c.843delC - r.(?) p.fs*
+/. 8 c.843delC - r.(?) p.fs*
+/. 8 c.869C>G - r.(?) p.(Thr290Ser)
+/. 8 c.869C>G - r.(?) p.(Thr290Ser)
+/. 8 c.871C>G - r.(?) p.(Arg291*)
+/. 8 c.871C>G - r.(?) p.(Arg291*)
+/. 8 c.871C>G - r.(?) p.(Arg291*)
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