Unique variants in the OAT gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000274.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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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     
./. 1 - c.-9273523_*2935700dup - - - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.-94T>G r.(?) p.(=) - benign g.126107506A>C g.124418937A>C - - OAT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.-53C>T r.(=), r.(?) p.(=) - likely benign, VUS g.126107465G>A g.124418896G>A - - OAT_000080 3 homozygous; Clinindb (India), 91 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs117824913 CLASSIFICATION record, Germline - 3/2793 individuals, 91/2793 individuals - - - VKGL-NL_Nijmegen, Mohammed Faruq
-?/. 1 - c.-30+8C>T r.(=) p.(=) - likely benign g.126107434G>A g.124418865G>A OAT(NM_000274.3):c.-30+8C>T (p.(=)) - OAT_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+?, +/. 2 2 c.3G>A r.(3g>a), r.(?) p.(Met1?) - pathogenic g.126100738C>T g.124412169C>T 3G>A: MI1 - OAT_000039 VKGL data sharing initiative Nederland, 1 more item PubMed: Brody 1992, PubMed: Park 1992 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, VKGL-NL_Nijmegen
-?/. 1 - c.48C>T r.(?) p.(Arg16=) - likely benign g.126100693G>A g.124412124G>A OAT(NM_000274.3):c.48C>T (p.R16=) - OAT_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+?, +/., +?/. 5 2 c.152G>A r.(152g>a), r.(?), r.152a>g p.(Gly51Asp), p.Gly51Asp - likely pathogenic, pathogenic g.126100589C>T g.124412020C>T 152A>G - OAT_000003 2 Southern Italian patients (com-het) and 1 English patient (hom), 1 more item PubMed: Doimo 2012, PubMed: Doimo 2012, PubMed: Sergouniotis 2012, PubMed: Sergouniotis 2012 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, Eva Trevisson, VKGL-NL_Nijmegen
+/+?, +/. 2 2 c.159del r.(?) p.(His53Glnfs*8) ACMG pathogenic g.126100582del g.124412013del 159delC: H53fs(-l), c.159delC - OAT_000029 Iraqi Jew mutation PubMed: Brody 1992, PubMed: Sharon 2019 - - Germline yes 2/2420 IRD families - - - Global Variome, with Curator vacancy, Anne Polvi
+/+? 1 2 c.162C>A r.(162c>a) p.(Asn54Lys) - pathogenic g.126100579G>T g.124412010G>T C>A at 162 bp, Asp54Lys - OAT_000030 Mutation leads to inactive OAT protein. PubMed: Ramesh 1988 - - Germline yes - - - - Anne Polvi
+/+? 2 2 c.163T>C r.(163u>c) p.(Tyr55His) - pathogenic g.126100578A>G g.124412009A>G 163T>C - OAT_000031 1 more item PubMed: Ramesh 1988, PubMed: Brody 1992, PubMed: Sergouniotis 2012 - - Germline yes - - - - Anne Polvi
+/+? 1 2 c.192_193del r.(?) p.(Gly65Lysfs*15) - pathogenic g.126100553_126100554del g.124411984_124411985del Codon 64, 65, AGA GGA (2-bp deletion)>frameshift>stop codon (codon 79c, exon 4) - OAT_000032 - PubMed: Mashima 1992 - - Germline yes - - - - Anne Polvi
-/. 2 - c.199+19C>T r.(=) p.(=) - benign g.126100523G>A g.124411954G>A OAT(NM_000274.3):c.199+19C>T - OAT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.199+20G>A r.(=) p.(=) - benign g.126100522C>T g.124411953C>T OAT(NM_000274.3):c.199+20G>A - OAT_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 1 2i c.199+303C>G r.199_200ins199+161_199+302 p.(=) - pathogenic g.126100239G>C g.124411670G>C 1 more item - OAT_000033 1 more item PubMed: Mitchell 1991 - - Germline yes - - - - Anne Polvi
-/. 2 - c.200-10T>C r.(=) p.(=) - benign g.126097544A>G g.124408975A>G OAT(NM_001322966.1):c.200-10T>C, OAT(NM_001322966.2):c.200-10T>C - OAT_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/+? 1 3 c.267C>A r.(267c>a) p.(Asn89Lys) - pathogenic g.126097467G>T g.124408898G>T 267C>A - OAT_000034 Finnish mutation PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 3 c.268C>G r.(268c>G) p.(Gln90Glu) - pathogenic g.126097466G>C g.124408897G>C 268C>G: Q90E - OAT_000035 Loss of mitocondrial targeting of mutant protein. PubMed: Kobayashi et al.1995 - - Germline yes - - - - Anne Polvi
+/+?, +?/., ?/. 3 3 c.272G>A r.(272g>a), r.(?) p.(Gly91Glu) - likely pathogenic, pathogenic, VUS g.126097462C>T g.124408893C>T OAT(NM_001322966.1):c.272G>A (p.G91E) - OAT_000068 VKGL data sharing initiative Nederland PubMed: Sergouniotis 2012, PubMed: Stone 2017 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, VKGL-NL_Rotterdam
+/+? 1 3 c.278G>T r.(278g>u) p.(Cys93Phe) - pathogenic g.126097456C>A g.124408887C>A 278G>T - OAT_000036 German/Italian mutation PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
?/. 1 - c.298G>A r.(?) p.(Ala100Thr) - VUS g.126097436C>T g.124408867C>T OAT(NM_001322966.1):c.298G>A (p.A100T) - OAT_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+?, +/. 2 3 c.311A>G r.(311a>g), r.311a>g p.(Gln104Arg), p.Gln104Arg - pathogenic g.126097423T>C g.124408854T>C - - OAT_000004 - PubMed: Doimo 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
-?/., ?/. 2 3 c.314T>C r.(?) p.(Val105Ala) - likely benign, VUS g.126097420A>G g.124408851A>G OAT(NM_001322966.1):c.314T>C (p.V105A), T314C - OAT_000088 VKGL data sharing initiative Nederland PubMed: Katagiri 2014 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam
+/+? 1 3 c.362G>A r.(362g>a) p.(Gly121Asp) - pathogenic g.126097372C>T g.124408803C>T - - OAT_000070 - PubMed: Sergouniotis 2012 - - Germline yes - - - - Anne Polvi
+/+? 1 3 c.373_375del r.(?) p.(Glu125del) - pathogenic g.126097362_126097364del g.124408793_124408795del Codon 125 GAG Glu deletion - OAT_000037 - PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
+/+? 1 3 c.381dup r.381dupu) p.(Thr128Tyrfs*2) - pathogenic g.126097354dup g.124408785dup 380-1insT: 1127fs(+l) - OAT_000038 Welsh mutation. Reduced RNA expression. PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +?/. 2 3i_4 c.425-4_429del r.425_520del, r.spl p.?, p.Gly142_Ala173del - likely pathogenic, pathogenic g.126097204_126097212del g.124408635_124408643del a 9-bp deletion covering the 3' splice acceptor region of intron 4: exon 5 skipping; McClatchey-1, 1 more item - OAT_000041 - PubMed: McClatchey 1990, PubMed: Stone 2017 - - Germline yes - - - - Anne Polvi
+/+? 1 3i c.425-2A>G r.425_520del p.Gly142_Ala173del - pathogenic g.126097208T>C g.124408639T>C Exon 5 skipping - OAT_000040 (Exon 4 skipping( published exon 5) PubMed: Mashima 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 4 c.425G>A r.(425g>a) p.(Gly142Glu) - pathogenic g.126097206C>T g.124408637C>T Codon 142 GGA>GAA: Gly>Glu - OAT_000042 - PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
?/. 1 - c.460C>T r.(?) p.(Arg154Cys) - VUS g.126097171G>A g.124408602G>A - - OAT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+? 1 4 c.461G>T r.(461g>u) p.(Arg154Leu) - pathogenic g.126097170C>A g.124408601C>A 461G>T - OAT_000043 English/German mutation. Mutation leads to production of inactive OAT protein. PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 4 c.472_486del r.472_486del p.Tyr158_Gly162del - pathogenic g.126097149_126097163del g.124408580_124408594del 15-bp deletion: del YTVKG - OAT_000044 - PubMed: Park 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 4i_5i c.521-172_648+772del r.521_648del p.(Gly175Cysfs*18) - pathogenic g.126093233_126094304del g.124404664_124405735del 1,072-bp deletion between 172 bp upstream and 772 bp downstream of exon 6: exon 6 skipping. - OAT_000046 1 more item PubMed: Akaki 1992 - - Germline yes - - - - Anne Polvi
-/. 1 - c.521-15_521-12del r.(=) p.(=) - benign g.126094149_126094152del g.124405580_124405583del OAT(NM_000274.3):c.521-15_521-12delGTTT - OAT_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 1 5 c.521-?_648+?del r.0 p.0 - pathogenic g.126094005_126094132del g.124405436_124405563del Partial deletion of gene including exon 6>'frameshift>stop codon (codon 192,c exon 7) - OAT_000045 1 more item PubMed: Mashima 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 5 c.533G>A r.533g>a p.(Trp178*) - pathogenic g.126094120C>T g.124405551C>T Exon 6 bp +13G>A: W178X and exon 6 skipping - OAT_000048 Exon 8 skipping in less than 5% of transcripts. PubMed: Dietz 1993 - - Germline yes - - - - Anne Polvi
+/+? 1 5 c.533_537del r.(?) p.(Trp178*) - pathogenic g.126094117_126094121del g.124405548_124405552del - - OAT_000047 - PubMed: Renner et al.2012 - - Germline yes - - - - Anne Polvi
+/+?, +/., ?/. 4 5 c.539G>C r.(539g>c), r.539g>c p.(Arg180Thr), p.Arg180Thr - pathogenic, VUS g.126094114C>G g.124405545C>G 539G>C, Codon 180 AGG (Arg) > ACG (Thr) - OAT_000017 Mutant OAT protein was inactive. PubMed: Brody 1992, PubMed: Mashima 1992, PubMed: Mitchell 1989 - - Germline yes 0/19 FIN CON - - - Anne Polvi
+/+? 1 5 c.542C>T r.(542C>u) p.(Thr181Met) - pathogenic g.126094111G>A g.124405542G>A Codon 181 ACG>ATG: Thr>Met - OAT_000049 - PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
+/+? 1 5 c.550G>A r.(550g>a) p.(Ala184Thr) - pathogenic g.126094103C>T g.124405534C>T - - OAT_000051 - PubMed: Michaud 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 5 c.550_552del r.(?) p.(Ala184del) - pathogenic g.126094103_126094105del g.124405534_124405536del 550delGCT - OAT_000050 Portugese mutation. Mutation leads to production of inactive OAT protein. PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
-?/. 1 - c.582C>T r.(?) p.(Tyr194=) - likely benign g.126094071G>A g.124405502G>A OAT(NM_001322966.1):c.582C>T (p.Y194=) - OAT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 5 c.583G>T r.(583g>u) p.(Asp195Tyr) - pathogenic g.126094070C>A g.124405501C>A Codon 195: GAT>TAT: Asp>Tyr - OAT_000052 - PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
+/+?, +/. 5 5 c.596C>A r.(596c>a), r.596c>a p.(Pro199Gln), p.Pro199Gln - pathogenic g.126094057G>T g.124405488G>T Codon 199 CCA (Pro)>CAA (Gln) - OAT_000008 - PubMed: Doimo 2012, PubMed: Mashima 1992, PubMed: Sergouniotis 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+?, +?/. 3 5 c.627T>A r.(?), r.0 p.(Tyr209Ter), p.0 - likely pathogenic, pathogenic g.126094026A>T g.124405457A>T Codon 209 (exon 6) TAT (Try) > TAA (stop codon) - OAT_000040 2 European patients (com-het) PubMed: Mashima 1992, PubMed: Riera 2017 - - Germline yes - - - - Anne Polvi
-/. 2 - c.648+14A>G r.(=) p.(=) - benign g.126093991T>C g.124405422T>C OAT(NM_000274.3):c.648+14A>G - OAT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+?, +/. 4 6 c.677C>T r.(677c>u), r.(?) p.(Ala226Val) - pathogenic g.126092461G>A g.124403892G>A 677C>G: A226V - OAT_000013 - PubMed: Brody 1992, PubMed: Michaud 1995, PubMed: Park 1992 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+? 1 6 c.698A>G r.(698a>g) p.(Gln233Arg) - pathogenic g.126092440T>C g.124403871T>C CAG>CGG: Q233R - OAT_000053 - PubMed: Park 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 6 c.710G>A r.(710g>a) p.(Gly237Asp) - pathogenic g.126092428C>T g.124403859C>T - - OAT_000054 - PubMed: Ohkubo 2005 - - Germline yes - - - - Anne Polvi
+/+?, +?/. 2 6 c.722C>T r.(722c>u), r.(?) p.(Pro241Leu) - likely pathogenic (recessive), pathogenic g.126092416G>A g.124403847G>A 722C>T - OAT_000055 German/Italian mutation PubMed: Brody 1992, PubMed: Taylor 2017 - - Germline yes - - - - Anne Polvi
+/+? 1 6 c.734A>G r.(734a>g) p.(Tyr245Cys) - pathogenic g.126092404T>C g.124403835T>C 734A>G - OAT_000056 - PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 6 c.748C>T r.(748c>u) p.(Arg250*) - pathogenic g.126092390G>A g.124403821G>A Arg250X - OAT_000071 - PubMed: Sergouniotis 2012 - - Germline yes - - - - Anne Polvi
+/+? 1 6 c.749G>C r.(749g>c) p.(Arg250Pro) - pathogenic g.126092389C>G g.124403820C>G 749G>C - OAT_000057 French mutation PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +?/. 2 7 c.800C>T r.(800c>u), r.(?) p.(Thr267Ile) ACMG likely pathogenic, pathogenic g.126091596G>A g.124403027G>A 800C>T - OAT_000058 - PubMed: Brody 1992, PubMed: Sharon 2019 - - Germline yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, Anne Polvi
+/+? 1 7 c.808G>C r.(808g>c) p.(Ala270Pro) - pathogenic g.126091588C>G g.124403019C>G 808G>C - OAT_000059 Portugese mutation PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+? 3 7 c.812G>A r.(812g>a) p.(Arg271Lys) - pathogenic g.126091584C>T g.124403015C>T 812G>A, Codon 271 AGA>AAA: Arg>Lys - OAT_000060 Japanese mutation PubMed: Brody 1992, PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
+/+? 1 7 c.824G>A r.901_1014del p.(Trp275*) - pathogenic g.126091572C>T g.124403003C>T Exon 8 bp +53G>A: W275X and exon 8 skipping - OAT_000061 Exon 5 skipping in less than 5% of transcripts. PubMed: Dietz 1993 - - Germline yes - - - - Anne Polvi
+/+?, +/. 4 7 c.897C>G r.(897c>g), r.(?) p.(Tyr299*), p.(Tyr299Ter) - pathogenic g.126091499G>C g.124402930G>C Codon 299 (exon 8) TAC (Tyr)>TAG (stop codon) - OAT_000062 3 European patients (com-het), VKGL data sharing initiative Nederland PubMed: Mashima 1992, PubMed: Renner et al.2012, PubMed: Sergouniotis 2012 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, VKGL-NL_Nijmegen
+/. 1 - c.900+1G>A r.spl p.? ACMG pathogenic g.126091495C>T - IVS7+1G>A - OAT_000087 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy
+/+? 1 7i c.901-2A>G r.901_1014del p.(Ser302_Val339del) - pathogenic g.126090410T>C g.124401841T>C 3' splice acceptor site of exon 9: del of exon 9: Val300-Glu338del - OAT_000063 Exon 8 skipping. PubMed: Park 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 8 c.952del r.(?) p.(Glu318Serfs*11) - pathogenic g.126090360del g.124401791del 949-52delG: E318fs(-l) - OAT_000064 Turkish (Shephardic) mutation. Very low RNA expression level. PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +/. 4 8 c.952G>A r.(952g>a), r.952g>a p.(Glu318Lys), p.Glu318Lys - pathogenic g.126090357C>T g.124401788C>T Glu318Lys - OAT_000011 - PubMed: Doimo 2012, PubMed: Mashima 1992, PubMed: Sergouniotis 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+? 2 8 c.955C>T r.(955c>u) p.(His319Tyr) - pathogenic g.126090354G>A g.124401785G>A C>T CAT>TAT: His319Tyr, Codon 319 CAT>TAT: His>Tyr - OAT_000065 1 more item PubMed: Inana 1989, PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
-/. 1 - c.969C>T r.(?) p.(Tyr323=) - benign g.126090340G>A g.124401771G>A OAT(NM_000274.3):c.969C>T (p.Y323=) - OAT_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+? 1 8 c.978T>A r.(978u>a) p.(Asn326Lys) - pathogenic g.126090331A>T g.124401762A>T Codon 326 AAT>AAA: Asn>Lys - OAT_000067 - PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi
+/+?, +/. 5 8 c.991C>T r.(991c>t), r.(?), r.991c>u p.(Arg331*), p.(Arg331Ter), p.Arg331* - pathogenic g.126090318G>A g.124401749G>A - - OAT_000002 1 Turkish patient (hom) and 1 Greek patient (com-het), VKGL data sharing initiative Nederland PubMed: Doimo 2012 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, Eva Trevisson, VKGL-NL_Nijmegen
+/+?, +/. 4 8 c.994G>A r.(994g>a), r.994g>a p.(Val332Met), p.Val332Met - pathogenic g.126090315C>T g.124401746C>T G>A at 994 bp: Val332 Met - OAT_000006 2 Southern Italian and 1 other patient (all hom). Mutation leads to inactive OAT protein. PubMed: Ramesh 1988, PubMed: Doimo 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
?/. 1 - c.1015-6A>G r.(=) p.(=) - VUS g.126089559T>C - OAT(NM_001322966.1):c.1015-6A>G - OAT_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 9 c.1031del r.(?) p.(Asn344Thrfs*13) - pathogenic g.126089540del g.124400971del 1028-31delA: N334fs(-l) - OAT_000022 West African mutation. Very low RNA expression level. PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +/., +?/. 3 9 c.1058G>A r.(1058g>a), r.(?) p.(Gly353Asp) - likely pathogenic, pathogenic g.126089510C>T g.124400941C>T 1058G>A, OAT(NM_001322966.1):c.1058G>A (p.G353D) - OAT_000023 Spanish mutation, VKGL data sharing initiative Nederland PubMed: Brody 1992 - - CLASSIFICATION record, Germline yes - - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.1112dup r.(?) p.(Arg372Lysfs*12) - pathogenic g.126089456dup - OAT(NM_001322966.1):c.1112dupT (p.R372Kfs*12) - OAT_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? 1 9 c.1118G>A r.(1118g>a) p.(Gly373Glu) - pathogenic g.126089450C>T g.124400881C>T Codon 373 GGA (Gly) > GAA (Glu) - OAT_000024 - PubMed: Mashima 1992 - - Germline yes - - - - Anne Polvi
+/+? 1 9 c.1124G>C r.(1124g>c) p.(Gly375Ala) - pathogenic g.126089444C>G g.124400875C>G 1124G>C - OAT_000025 - PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
-/. 2 - c.1134C>T r.(?) p.(Asn378=) - benign g.126089434G>A g.124400865G>A OAT(NM_000274.3):c.1134C>T (p.N378=) - OAT_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/+? 1 10 c.1172G>A r.(1172g>a) p.(Trp391*) - pathogenic g.126086659C>T g.124398090C>T 1171G>A: W391X - OAT_000026 Unknown ethnicity PubMed: Michaud 1992 - - Germline yes - - - - Anne Polvi
+/+?, +?/. 2 10 c.1180T>C r.(1180u>c), r.(?) p.(Cys394Arg) - likely pathogenic, pathogenic g.126086651A>G g.124398082A>G 1180T>C - OAT_000012 - PubMed: Brody 1992 - - Germline, Unknown yes - - - - Anne Polvi, Eva Trevisson
+/+?, +/. 5 10 c.1181G>A r.(1181g>a), r.1181g>a p.(Cys394Tyr), p.Cys394Tyr - pathogenic g.126086650C>T g.124398081C>T - - OAT_000001 3 Southern Italian patients (1 hom and 2 com-het) PubMed: Doimo 2012 - - Germline, Germline/De novo (untested) yes - - - - Anne Polvi, Eva Trevisson
+/+? 1 10 c.1186C>T r.(1186c>u) p.(Arg396*) - pathogenic g.126086645G>A g.124398076G>A 1186C>T - OAT_000027 - PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +/. 2 10 c.1192C>T r.(1192c>T), r.(?) p.(Arg398*) - pathogenic g.126086639G>A g.124398070G>A C>T transition at position 1192C>T: R398ter - OAT_000014 Inactive OAT protein. PubMed: Brody 1992, PubMed: Michaud 1995 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+? 1 10 c.1201G>T r.(1201g>u) p.(Gly401*) - pathogenic g.126086630C>A g.124398061C>A 1201G>T - OAT_000028 - PubMed: Brody 1992 - - Germline yes - - - - Anne Polvi
+/+?, +/. 3 10 c.1205T>C r.(1205u>c), r.(?), r.1205u>c p.(Leu402Pro), p.Leu402Pro - pathogenic g.126086626A>G g.124398057A>G 1205T>C - OAT_000016 14 Finnish families (hom). Finnish major mutation. Mutant OAT protein was inactive., 1 more item PubMed: Brody 1992, PubMed: Mitchell 1989, PubMed: Mitchell 1989, PubMed: Brody 1992 - - Germline, Unknown yes 0/19 FIN CON - - - Anne Polvi, Eva Trevisson
+/+?, +/. 5 10 c.1250C>T r.(1250c>u), r.1250c>t, r.1250c>u p.(Pro417Leu), p.Pro417Leu - pathogenic g.126086581G>A g.124398012G>A 1250C>T, [1250C>T, 1311G>T] - OAT_000009 - PubMed: Brody 1992, PubMed: Sergouniotis 2012, PubMed: Doimo 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+?, +?/. 3 10 c.1276C>T r.(1276c>u), r.(?) p.(Arg426*) - likely pathogenic, pathogenic g.126086555G>A g.124397986G>A Codon 426 (exon 11, homozygous) CGA (Arg)>TGA (stop codon), Codon 426 CGA>TGA: Arg>Ter - OAT_000015 2 Japanese patients (hom) PubMed: Brody 1992, PubMed: Mashima 1992, PubMed: Mashima 1996 - - Germline yes - - - - Anne Polvi, Eva Trevisson
+/+?, +/., +?/. 3 10 c.1307T>A r.(1307t>a), r.(?), r.1307u>a p.(Ile436Asn), p.Ile436Asn - likely pathogenic, pathogenic g.126086524A>T g.124397955A>T - - OAT_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Doimo 2012, PubMed: Narang 2020, Journal: Narang 2020 - rs386833598 Germline yes 1/2789 individuals - - - Anne Polvi, Eva Trevisson, Mohammed Faruq
+/+?, -/. 3 10 c.1311G>T r.(1311g>u), r.1311g>t, r.1311g>u p.(Leu437Phe), p.Leu437Phe - benign, pathogenic g.126086520C>A g.124397951C>A 1311G>T, [1250C>T, 1311G>T] - OAT_000010 Mutation with undetermined ethnicity. PubMed: Brody 1992, PubMed: Doimo 2012 - - Germline yes - - - - Anne Polvi, Eva Trevisson
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