Unique variants in the GATM gene

Information The variants shown are described using the NM_001482.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Reported     

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     
-/-? 3 1 c.68G>A r.(?) p.(Arg23Gln), p.Arg23Gln - benign, NA g.45670584C>T g.45378386C>T - - GATM_009034 overexpression studies showed 28,0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-?/. 2 - c.69+13C>T r.(=) p.(=) - likely benign g.45670570G>A g.45378372G>A GATM(NM_001482.2):c.69+13C>T, GATM(NM_001482.3):c.69+13C>T - GATM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/-? 3 2 c.277A>G r.(?) p.(Ile93Val), p.Ile93Val - benign, NA g.45668810T>C g.45376612T>C - - GATM_009035 overexpression studies showed 18,0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-/-? 3 3 c.306G>C r.(?) p.(Lys102Asn), p.Lys102Asn - benign, NA g.45661702C>G g.45369504C>G - - GATM_009036 overexpression studies showed 37,0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+? 3 3 c.314C>T r.(?) p.(Pro105Leu), p.Pro105Leu - NA, pathogenic (recessive) g.45661694G>A g.45369496G>A - - GATM_009045 overexpression studies showed 0,60% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-/. 2 - c.330A>T r.(?) p.(Gln110His) - benign g.45661678T>A g.45369480T>A GATM(NM_001482.2):c.330A>T (p.Q110H), GATM(NM_001482.3):c.330A>T (p.Q110H) - GATM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/-? 3 3 c.407C>T r.(?) p.(Thr136Met), p.Thr136Met - benign, NA g.45661601G>A g.45369403G>A - - GATM_009037 overexpression studies showed 100% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-?/. 1 - c.408G>A r.(?) p.(Thr136=) - likely benign g.45661600C>T g.45369402C>T GATM(NM_001321015.1):c.21G>A (p.T7=) - GATM_009053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 8 3 c.446G>A r.(?) p.(Trp149*) - pathogenic (recessive) g.45661562C>T g.45369364C>T c.9297G>A - GATM_009001 - PubMed: Stockler-Ipsiroglu 2015, PubMed: Bianchi 2000 - - Germline - - - - - Gajja Salomons
+/+ 3 3i c.484+1G>T r.289_484del p.Ala97Valfs*11 - pathogenic (recessive) g.45661523C>A g.45369325C>A IVS3+1G>T - GATM_009002 pathogenic, erroneous splicing was demonstrated PubMed: Ndika 2012, Journal: Salomons 2005 - - Germline - - - - - Gajja Salomons
+/+ 8 4 c.505C>T r.(?) p.(Arg169*) - pathogenic (recessive) g.45660438G>A g.45368240G>A R169X - GATM_009003 - PubMed: Verma 2010 - - Germline - - - - - Gajja Salomons
+/+? 3 4 c.541G>A r.(?) p.(Glu181Lys), p.Glu181Lys - NA, pathogenic (recessive) g.45660402C>T g.45368204C>T - - GATM_009046 overexpression studies showed 0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+? 3 4 c.553G>C r.(?) p.(Ala185Pro), p.Ala185Pro - NA, pathogenic (recessive) g.45660390C>G g.45368192C>G - - GATM_009033 overexpression studies showed 2,2% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016, PubMed: Stockler-Ipsiroglu 2015, PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+? 3 4 c.565C>T r.(?) p.(Arg189Cys), p.Arg189Cys - NA, pathogenic (recessive) g.45660378G>A g.45368180G>A - - GATM_009047 overexpression studies showed 0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+, +/+? 13 4 c.608A>C r.(?) p.(Tyr203Ser), p.Tyr203Ser - NA, pathogenic (recessive) g.45660335T>G g.45368137T>G - - GATM_009009 overexpression studies showed 0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016, PubMed: Nouioua 2013, PubMed: Nouioua 2013, PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Rahma MANI
+/+? 3 4 c.622G>A r.(?) p.(Ala208Thr), p.Ala208Thr - NA, pathogenic (recessive) g.45660321C>T g.45368123C>T - - GATM_009048 overexpression studies showed 0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+ 6 4 c.629G>A r.(?) p.(Trp210*) - pathogenic (recessive) g.45660314C>T g.45368116C>T - - GATM_009029 - PubMed: Stockler 2015 - - Germline - - - - - Gajja Salomons
-/-? 3 4 c.655G>A r.(?) p.(Ala219Thr), p.Ala219Thr - benign, NA g.45660288C>T g.45368090C>T - - GATM_009038 overexpression studies showed 63% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-?/. 1 - c.669T>C r.(?) p.(Tyr223=) - likely benign g.45660274A>G g.45368076A>G GATM(NM_001321015.1):c.282T>C (p.Y94=) - GATM_009052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-? 3 5 c.692C>G r.(?) p.(Ser231Cys), p.Ser231Cys - benign, NA g.45658690G>C g.45366492G>C - - GATM_009039 overexpression studies showed 100% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-/-? 3 5 c.701A>G r.(?) p.(Asp234Gly), p.Asp234Gly - benign, NA g.45658681T>C g.45366483T>C - - GATM_009040 overexpression studies showed 82% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
?/. 1 - c.722A>G r.(?) p.(Gln241Arg) - VUS g.45658660T>C - GATM(NM_001321015.1):c.335A>G (p.Q112R) - GATM_009054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 3 6 c.845G>A r.(?) p.(Arg282His), p.Arg282His - NA, pathogenic (recessive) g.45658377C>T g.45366179C>T - - GATM_009042 overexpression studies showed 7,60% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
-?/. 1 - c.979-11dup r.(=) p.(=) - likely benign g.45657076dup g.45364878dup GATM(NM_001321015.1):c.592-11dupT - GATM_009050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 3 7 c.985C>G r.(?) p.(Leu329Val), p.Leu329Val - NA, pathogenic (recessive) g.45657052G>C g.45364854G>C - - GATM_009043 overexpression studies showed 5,0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+? 3 7 c.1037C>T r.(?) p.(Pro346Leu), p.Pro346Leu - NA, pathogenic (recessive) g.45657000G>A g.45364802G>A - - GATM_009044 overexpression studies showed 4,0% AGAT activity, variant reported in Exome Variant Server PubMed: DesRoches 2016 - - Germline, In vitro (cloned) - - - - - Rahma MANI
+/+ 4 8 c.1111dup r.(?) p.(Met371Asnfs*6) - pathogenic (recessive) g.45656146dup g.45363948dup c.1111_1112insA - GATM_009004 - PubMed: Edvardson 2010 - - Germline - - - - - Gajja Salomons
+/+, +/+? 4 9 c.1237C>T r.(?) p.(Arg413Trp), p.Arg413Trp - NA, pathogenic (recessive) g.45654342G>A g.45362144G>A p.R413W - GATM_009010 overexpression studies showed 0% AGAT activity, Patient A2 in Comeaux et al, 2013, 1 more item PubMed: Comeaux 2013, PubMed: Stockler 2015, PubMed: DesRoches 2016, 1 more item - - Germline, In vitro (cloned) - - - - - Gajja Salomons, Rahma MANI
+/+, +/+?, ?/. 5 9 c.1238G>A r.(?) p.(Arg413Gln), p.Arg413Gln - NA, pathogenic (recessive), VUS g.45654341C>T g.45362143C>T GATM(NM_001482.2):c.1238G>A (p.R413Q), p.R413Q - GATM_000002 overexpression studies showed 1,57% AGAT activity, Patient A2 in Comeaux et al, 2013, 2 more items PubMed: Comeaux 2013, PubMed: DesRoches 2016, PubMed: DesRoches 2016, PubMed: Comeaux 2013 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Gajja Salomons, VKGL-NL_VUmc, Rahma MANI
-/-?, ?/. 4 9 c.1244G>A r.(?) p.(Arg415Gln), p.Arg415Gln - benign, NA, VUS g.45654335C>T g.45362137C>T GATM(NM_001321015.1):c.857G>A (p.R286Q) - GATM_000001 overexpression studies showed 39,0% AGAT activity, variant reported in Exome Variant Server, 1 more item PubMed: DesRoches 2016 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - VKGL-NL_Rotterdam, Rahma MANI
-/. 2 - c.1252T>C r.(?) p.(Leu418=) - benign g.45654327A>G g.45362129A>G GATM(NM_001482.2):c.1252T>C (p.L418=), GATM(NM_001482.3):c.1252T>C (p.L418=) - GATM_009049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
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