All variants in the ATIC gene

Information The variants shown are described using the NM_004044.6 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.53T>G r.(?) p.(Val18Gly) - VUS g.216177254T>G g.215312531T>G ATIC(NM_004044.6):c.53T>G (p.(Val18Gly)) - ATIC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.281A>G r.(?) p.(Asn94Ser) - likely benign g.216184445A>G g.215319722A>G ATIC(NM_004044.6):c.281A>G (p.(Asn94Ser)) - ATIC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.380-19A>C r.(=) p.(=) - benign g.216190691A>C g.215325968A>C ATIC(NM_004044.7):c.380-19A>C - ATIC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.389C>T r.(?) p.(Thr130Ile) - VUS g.216190719C>T - ATIC(NM_004044.6):c.389C>T (p.T130I) - ATIC_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.595A>G r.(?) p.(Lys199Glu) - likely benign g.216191608A>G g.215326885A>G ATIC(NM_004044.6):c.595A>G (p.(Lys199Glu)) - ATIC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.783C>T r.(?) p.(Ala261=) - likely benign g.216197199C>T - ATIC(NM_004044.6):c.783C>T (p.A261=) - ATIC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.955G>A r.(?) p.(Val319Ile) - benign g.216199674G>A g.215334951G>A ATIC(NM_004044.6):c.955G>A (p.V319I, p.(Val319Ile)) - ATIC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.955G>A r.(?) p.(Val319Ile) - likely benign g.216199674G>A g.215334951G>A ATIC(NM_004044.6):c.955G>A (p.V319I, p.(Val319Ile)) - ATIC_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1099-1G>T r.spl? p.? - pathogenic g.216203501G>T - ATIC(NM_004044.6):c.1099-1G>T - ATIC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1246C>T r.(?) p.(Arg416Ter) - VUS g.216209520C>T - ATIC(NM_004044.6):c.1246C>T (p.R416*) - ATIC_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1367G>A r.(?) p.(Arg456His) - VUS g.216211528G>A g.215346805G>A - - ATIC_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1499G>A r.(?) p.(Gly500Asp) - likely benign g.216211660G>A g.215346937G>A ATIC(NM_004044.6):c.1499G>A (p.(Gly500Asp)) - ATIC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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