Full data view for gene OAT

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.

233 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-9273523_*2935700dup - - Unknown - pathogenic g.123150811_135380935dup - - - ACADSB_000015 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-/. - c.-94T>G r.(?) p.(=) Unknown - benign g.126107506A>C g.124418937A>C - - OAT_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-53C>T r.(?) p.(=) Unknown - likely benign g.126107465G>A g.124418896G>A - - OAT_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-53C>T r.(=) p.(=) Parent #1 - VUS g.126107465G>A g.124418896G>A - - OAT_000080 91 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117824913 Germline - 91/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 91 Mohammed Faruq
?/. - c.-53C>T r.(=) p.(=) Both (homozygous) - VUS g.126107465G>A g.124418896G>A - - OAT_000080 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117824913 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-?/. - c.-30+8C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.0 p.0 Paternal (confirmed) - likely pathogenic g.? g.? OAT partial deletion EcoRI frgment 5.7 kb to ~5kb - CYP2C9_001038 heterozygous; second allele unknown PubMed: Hotta 1989 - - Germline yes - - - - DNA Southern, Northern, RFLP, SEQ - - GACR;OATD 3 PubMed: Hotta 1989 - M - - English - - - - 1 LOVD
+?/. - c.? r.0 p.0 Both (homozygous) - likely pathogenic g.? g.? OAT partial deletion EcoRI frgment ~5.4 Kbp; complete absence of mRNA - CYP2C9_001038 heterozygous PubMed: Inana 1988 - - Germline yes - - - - DNA Southern, Northern, RFLP - - GACR;OATD 35 PubMed: Inana 1988 also patients 14, 15, 36 and 37 tested, but not sequenced, so no variants found - - - - - - - - 1 LOVD
+?/. - c.? r.0 p.0 Parent #2 - likely pathogenic g.? g.? OAT promoter ? - CYP2C9_001038 Northern 50% of expression, so probably a heterozygous mutation in the promoter or partial deletion PubMed: Mashima 1999 - - Germline ? - - - - DNA DGGE, Northern, SEQ skin fibroblasts - GACR;OATD patient 3 PubMed: Mashima 1999 - F - - English/Scottish/Czech - - - - 1 LOVD
+/+? 2 c.3G>A r.(3g>a) p.(Met1?) Both (homozygous) - pathogenic g.126100738C>T g.124412169C>T 3G>A: MI1 - OAT_000039 1 Lebanese Maronite patient and 1 patient of unknown ethnicity. Mutation leads to production of inactive OAT protein. PubMed: Brody 1992, PubMed: Park 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - Lebanese Maronite - - - - 1 Anne Polvi
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.126100738C>T g.124412169C>T - - OAT_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic g.126100738C>T g.124412169C>T OAT G->A transition, changing the initiator ATG (methionine) codon to ATA - OAT_000039 homozygous PubMed: Mitchell 1988 - - Germline yes - - - - DNA Southern, Northern, RFLP, SEQ - - GACR;OATD 7 PubMed: Mitchell 1988 sibling pair 1, individual 7 F - Lebanon Lebanese Maronite - - - - 1 LOVD
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic g.126100738C>T g.124412169C>T OAT G->A transition, changing the initiator ATG (methionine) codon to ATA - OAT_000039 homozygous PubMed: Mitchell 1988 - - Germline yes - - - - DNA Southern, Northern, RFLP, SEQ - - GACR;OATD 16 PubMed: Mitchell 1988 sibling pair 1, individual 16 M - Lebanon Lebanese Maronite - - - - 1 LOVD
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic g.126100738C>T g.124412169C>T OAT G->A transition, changing the initiator ATG (methionine) codon to ATA - OAT_000039 homozygous PubMed: Mitchell 1988 - - Germline yes - - - - DNA Southern, Northern, RFLP, SEQ - - GACR;OATD 25 PubMed: Mitchell 1988 sibling pair 2, individual 25 F - Lebanon Lebanese Maronite - - - - 1 LOVD
+/. - c.3G>A r.(?) p.(Met1?) Both (homozygous) - pathogenic g.126100738C>T g.124412169C>T OAT G->A transition, changing the initiator ATG (methionine) codon to ATA - OAT_000039 homozygous PubMed: Mitchell 1988 - - Germline yes - - - - DNA Southern, Northern, RFLP, SEQ - - GACR;OATD 26 PubMed: Mitchell 1988 sibling pair 2, individual 26 M - Lebanon Lebanese Maronite - - - - 1 LOVD
-?/. - c.48C>T r.(?) p.(Arg16=) Unknown - likely benign g.126100693G>A g.124412124G>A OAT(NM_000274.4):c.48C>T (p.R16=) - OAT_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.152G>A r.(152g>a) p.(Gly51Asp) Parent #2 - pathogenic (recessive) g.126100589C>T g.124412020C>T - - OAT_000003 - PubMed: Doimo 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Doimo 2012 - - - Italy Southern Italian - - - - 1 Anne Polvi
+/+? 2 c.152G>A r.(152g>a) p.(Gly51Asp) Parent #2 - pathogenic (recessive) g.126100589C>T g.124412020C>T - - OAT_000003 - PubMed: Doimo 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Doimo 2012 - - - Italy Southern Italian - - - - 1 Anne Polvi
+/+? 2 c.152G>A r.(152g>a) p.(Gly51Asp) Both (homozygous) - pathogenic g.126100589C>T g.124412020C>T - - OAT_000003 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+?/. - c.152G>A r.(?) p.(Gly51Asp) Unknown - likely pathogenic g.126100589C>T g.124412020C>T - - OAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2 c.159del r.(?) p.(His53Glnfs*8) Both (homozygous) - pathogenic g.126100582del g.124412013del 159delC: H53fs(-l) - OAT_000029 Iraqi Jew mutation PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - Iraq;Jewish - - - - 1 Anne Polvi
+/. - c.159del r.(?) p.(His53Glnfs*8) Unknown ACMG pathogenic g.126100582del - c.159delC - OAT_000029 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.159delC r.(?) p.(His53Glnfs*8) Both (homozygous) - likely pathogenic g.126100582del g.124412013del OAT c.159delC, p.(H53Qfs7*) - OAT_000029 homozygous PubMed: Heller 2017 - - Germline yes - - - - DNA SEQ - - GACR;OATD Family-A proband PubMed: Heller 2017 - F - Israel Syrian Jewish - - - - 1 LOVD
+/+? 2 c.162C>A r.162c>a p.Asn54Lys Both (homozygous) - pathogenic (recessive) 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 - - - - DNA, RNA RT-PCR, SEQ - - GACR;OATD - PubMed: Ramesh 1988 - - - United States - - - - - 1 Anne Polvi
+/+? 2 c.163T>C r.(163u>c) p.(Tyr55His) Parent #1 - pathogenic g.126100578A>G g.124412009A>G 163T>C - OAT_000031 Australian/Hungarian/English mutation. Mutation leads to very low RNA expression level and production of inactive OAT protein. PubMed: Ramesh 1988, PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - - - - - - 1 Anne Polvi
+/+? 2 c.163T>C r.(163u>c) p.(Tyr55His) Parent #1 - pathogenic g.126100578A>G g.124412009A>G - - OAT_000031 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+/. - c.192_193del r.(?) p.(Gly65Lysfs*15) Parent #1 - pathogenic (recessive) g.126100553_126100554del g.124411984_124411985del 192_193delAG - OAT_000032 - PubMed: Mashima 1992 - - Germline - - - - - DNA DGGE, SEQ - - GACR;OATD Pat1 PubMed: Mashima 1992 adopted - - Canada - - - - - 1 Johan den Dunnen
-?/. - c.199+11_199+16dup r.(=) p.(=) Unknown - likely benign g.126100527_126100532dup - OAT(NM_001322966.2):c.199+11_199+16dupAATTAA - OAT_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199+11_199+16dupAATTAA r.spl? p.? Unknown - VUS g.126100527_126100532dup g.124411958_124411963dup OAT c.199+11_199+16dupAATTAA - OAT_000099 heterozygous; segregation not performed PubMed: Kim 2013 - - Germline ? - - - - DNA SEQ - - GACR;OATD older twin PubMed: Kim 2013 identical twin 1 F - - - - - - B6 (pyridoxine) 300 mg daily and an arginine-restricted diet 1 LOVD
?/. - c.199+11_199+16dupAATTAA r.spl? p.? Unknown - VUS g.126100527_126100532dup g.124411958_124411963dup OAT c.199+11_199+16dupAATTAA - OAT_000099 heterozygous; segregation not performed PubMed: Kim 2013 - - Germline ? - - - - DNA SEQ - - GACR;OATD younger twin PubMed: Kim 2013 identical twin 2 F - - - - - - B6 (pyridoxine) 300 mg daily and an arginine-restricted diet 1 LOVD
-/. - c.199+19C>T r.(=) p.(=) Unknown - benign g.126100523G>A g.124411954G>A OAT(NM_000274.4):c.199+19C>T - OAT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.199+19C>T r.(=) p.(=) Unknown - benign g.126100523G>A g.124411954G>A OAT(NM_000274.4):c.199+19C>T - OAT_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.199+20G>A r.(=) p.(=) Unknown - benign g.126100522C>T g.124411953C>T OAT(NM_000274.4):c.199+20G>A - OAT_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 2i c.199+303C>G r.199_200ins199+161_199+302 p.(=) Both (homozygous) - pathogenic g.126100239G>C g.124411670G>C OAT G67ins; C>G transition in intron 3: mRNA with 142-bp insertion (new Alu exon"") between exon 3 and 4"" - OAT_000033 Mutation creates a new donor splice site that activates an upstream cryptic acceptor site. New 142 bp exon"" is created and included into transcript."" PubMed: Mitchell 1991 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mitchell 1991 - - - Algeria Algerian - - - - 1 Anne Polvi
-/. - c.200-10T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.200-10T>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.248G>A r.(?) p.(Ser83Asn) Both (homozygous) - likely pathogenic g.126097486C>T g.124408917C>T OAT c.G248A:p.S83N - OAT_000098 homozygous PubMed: Huang 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing, 195 genes GACR;OATD IV:1 PubMed: Huang 2018 parents first cousins; proband, sister of IV:2 F yes China Chinese - - - - 1 LOVD
+?/. 3 c.248G>A r.(?) p.(Ser83Asn) Both (homozygous) - likely pathogenic g.126097486C>T g.124408917C>T OAT c.G248A:p.S83N - OAT_000098 homozygous PubMed: Huang 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood targeted next-generation sequencing, 195 genes GACR;OATD IV:2 PubMed: Huang 2018 parents first cousins; sister of IV:1 F yes China Chinese - - - - 1 LOVD
+/+? 3 c.267C>A r.(267c>a) p.(Asn89Lys) Parent #1 - pathogenic g.126097467G>T g.124408898G>T 267C>A - OAT_000034 Finnish mutation PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - Finland Finnish - - - - 1 Anne Polvi
+/. - c.267C>A r.(?) p.(Asn89Lys) Parent #2 - pathogenic g.126097467G>T g.124408898G>T OAT N89K - OAT_000034 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 20 PubMed: Peltola 2001 - M - - - - - - creatine supplementation 1 LOVD
+/+? 3 c.268C>G r.(268c>G) p.(Gln90Glu) Both (homozygous) - 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 - - - - DNA SEQ - - GACR;OATD - PubMed: Kobayashi et al.1995 1 familie, 1 patient - - Japan Japanese - - - - 1 Anne Polvi
+/+? 3 c.272G>A r.(272g>a) p.(Gly91Glu) Both (homozygous) - pathogenic g.126097462C>T g.124408893C>T - - OAT_000068 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) - - - - - 1 Anne Polvi
?/. - c.272G>A r.(?) p.(Gly91Glu) Unknown - VUS g.126097462C>T - OAT(NM_001322966.1):c.272G>A (p.G91E) - OAT_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.272G>A r.(?) p.(Gly91Glu) Parent #1 - likely pathogenic g.126097462C>T g.124408893C>T - - OAT_000068 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 944 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/+? 3 c.278G>T r.(278g>u) p.(Cys93Phe) Parent #1 - pathogenic g.126097456C>A g.124408887C>A 278G>T - OAT_000036 German/Italian mutation PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - German/Italian - - - - 1 Anne Polvi
?/. - c.298G>A r.(?) p.(Ala100Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.311A>G r.311a>g p.Gln104Arg Parent #2 - pathogenic g.126097423T>C g.124408854T>C - - OAT_000004 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GACR;OATD - - - - - Greece Greece - - - - 1 Eva Trevisson
+/+? 3 c.311A>G r.(311a>g) p.(Gln104Arg) Parent #2 - pathogenic g.126097423T>C g.124408854T>C - - OAT_000004 - PubMed: Doimo 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Doimo 2012 - - - Greece - - - - - 1 Anne Polvi
-?/. - c.314T>C r.(?) p.(Val105Ala) Unknown - likely benign g.126097420A>G - OAT(NM_001322966.1):c.314T>C (p.V105A) - OAT_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.314T>C r.(?) p.(Val105Ala) Unknown - VUS g.126097420A>G g.124408851A>G T314C - OAT_000088 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease - PubMed: Katagiri 2014 index patient M no Japan Japanese - - - - 1 Rob W.J. Collin
+/+? 3 c.362G>A r.(362g>a) p.(Gly121Asp) Parent #1 - pathogenic g.126097372C>T g.124408803C>T - - OAT_000070 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+/+? 3 c.373_375del r.(?) p.(Glu125del) Parent #1 - pathogenic g.126097362_126097364del g.124408793_124408795del Codon 125 GAG Glu deletion - OAT_000037 - PubMed: Mashima 1996 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mashima 1996 - - - Japan Japanese - - - - 1 Anne Polvi
+/+? 3 c.381dup r.381dupu) p.(Thr128Tyrfs*2) Parent #1 - pathogenic g.126097354dup g.124408785dup 380-1insT: 1127fs(+l) - OAT_000038 Welsh mutation. Reduced RNA expression. PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - Welsh - - - - 1 Anne Polvi
+?/. - c.416T>G r.(?) p.(Met139Arg) Both (homozygous) ACMG likely pathogenic g.126097318A>C g.124408749A>C OAT c.416T>G, p.(Met139Arg) - OAT_000090 homozygous PubMed: Dineiro 2020 - - Germline ? - - - - DNA SEQ-NG-I, SEQ blood, saliva targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease OFTALMO.022 PubMed: Dineiro 2020 - ? - Spain - - - - - 1 LOVD
+/+? 3i_4 c.425-4_429del r.425_520del p.Gly142_Ala173del Parent #1 - 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 - OAT_000041 - PubMed: McClatchey 1990 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: McClatchey 1990 - - - - Danish/Swedish - - - - 1 Anne Polvi
+?/. - c.425-4_429del r.spl p.? Parent #2 - likely pathogenic g.126097204_126097212del g.124408635_124408643del IVS3-6del9cTGATAGGAG - OAT_000041 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 944 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/+? 3i c.425-2A>G r.425_520del p.Gly142_Ala173del Parent #2 - pathogenic (recessive) g.126097208T>C g.124408639T>C Exon 5 skipping - OAT_000040 exon 4 skipping (published exon 5) PubMed: Mashima 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mashima 1992 2-generation family, 2 affected sisters F - United States - - - - - 2 Anne Polvi
+/. - c.425-2A>G r.spl p.? Parent #2 - pathogenic g.126097208T>C g.124408639T>C OAT IVS4 nt-2 a->g - OAT_000040 exon 4 (described as exon 5) not spliced in; possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous PubMed: Mashima 1999 - - Germline yes - - - - DNA DGGE, Northern, SEQ skin fibroblasts - GACR;OATD patient 1 PubMed: Mashima 1999 sibship 1, patient 1 F - - English/German/Scottish - - - - 1 LOVD
+/. - c.425-2A>G r.spl p.? Parent #2 - pathogenic g.126097208T>C g.124408639T>C OAT IVS4 nt-2 a->g - OAT_000040 exon 4 (described as exon 5) not spliced in; possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous PubMed: Mashima 1999 - - Germline yes - - - - DNA DGGE, Northern, SEQ skin fibroblasts - GACR;OATD patient 2 PubMed: Mashima 1999 sibship 1, patient 2 F - - English/German/Scottish - - - - 1 LOVD
+/+? 4 c.425G>A r.(425g>a) p.(Gly142Glu) Both (homozygous) - pathogenic g.126097206C>T g.124408637C>T Codon 142 GGA>GAA: Gly>Glu - OAT_000042 - PubMed: Mashima 1996 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mashima 1996 - - - Japan Japanese - - - - 1 Anne Polvi
+/. - c.425G>A r.(?) p.(Gly142Glu) Unknown - pathogenic g.126097206C>T g.124408637C>T OAT c.425G>A - OAT_000042 heterozygous; segregation not performed PubMed: Kim 2013 - - Germline ? - - - - DNA SEQ - - GACR;OATD older twin PubMed: Kim 2013 identical twin 1 F - - - - - - B6 (pyridoxine) 300 mg daily and an arginine-restricted diet 1 LOVD
+/. - c.425G>A r.(?) p.(Gly142Glu) Unknown - pathogenic g.126097206C>T g.124408637C>T OAT c.425G>A - OAT_000042 heterozygous; segregation not performed PubMed: Kim 2013 - - Germline ? - - - - DNA SEQ - - GACR;OATD younger twin PubMed: Kim 2013 identical twin 2 F - - - - - - B6 (pyridoxine) 300 mg daily and an arginine-restricted diet 1 LOVD
?/. - c.460C>T r.(?) p.(Arg154Cys) Unknown - VUS g.126097171G>A g.124408602G>A - - OAT_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 4 c.461G>T r.(461g>u) p.(Arg154Leu) Both (homozygous) - 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 - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - English/German - - - - 1 Anne Polvi
+/+? 4 c.472_486del r.472_486del p.Tyr158_Gly162del Parent #1 - pathogenic g.126097149_126097163del g.124408580_124408594del 15-bp deletion: del YTVKG - OAT_000044 - PubMed: Park 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Park 1992 1 familie, 1 patient - - - - - - - - 1 Anne Polvi
+?/. 10 c.473A>C r.(?) p.(Tyr158Ser) Both (homozygous) - likely pathogenic g.126097158T>G g.124408589T>G OAT c.473A>C: p.Y158S - OAT_000097 homozygous PubMed: Cui 2018 - - Germline ? - - - - DNA SEQ - - GACR;OATD ? PubMed: Cui 2018 parents first cousins F yes Honduras - - - - - 1 LOVD
+?/. 5 c.505_506del r.(?) p.(Lys169Aspfs*11) Maternal (confirmed) - likely pathogenic g.126097126_126097127del g.124408557_124408558del OAT c.504_505delAA (exon 5) (p.K169DfsX10) - OAT_000096 heterozygous PubMed: Katagiri 2014 - - Germline yes - - - - DNA SEQ - - GACR;OATD II-1 (JU#0213) PubMed: Katagiri 2014 family JU#0213, individual II-1, brother of II-2 M - Japan Japanese - - - - 1 LOVD
+?/. 5 c.505_506del r.(?) p.(Lys169Aspfs*11) Maternal (confirmed) - likely pathogenic g.126097126_126097127del g.124408557_124408558del OAT c.504_505delAA (exon 5) (p.K169DfsX10) - OAT_000096 heterozygous PubMed: Katagiri 2014 - - Germline yes - - - - DNA SEQ - - GACR;OATD II-2 (JU#0213) PubMed: Katagiri 2014 family JU#0213, individual II-2, brother of II-1 M - Japan Japanese - - - - 1 LOVD
+/+? 4i_5i c.521-172_649-744del r.521_648del p.Gly175Cysfs*18 Parent #1 - pathogenic (recessive) g.126093239_126094310del g.124404670_124405741del 1,072-bp deletion between 172 bp upstream and 772 bp downstream of exon 6: exon 6 skipping. - OAT_000046 very low RNA expression PubMed: Akaki 1992 - - Germline yes - - - - DNA, RNA PCR, RT-PCR, SEQ - - GACR;OATD patient;Pat2 PubMed: Akaki 1992, PubMed: Mashima 1992 2-generation family, 1 affected - - England;France;Germany;Netherlands Europe - - - - 1 Anne Polvi
-/. - c.521-15_521-12del r.(=) p.(=) Unknown - benign g.126094149_126094152del g.124405580_124405583del OAT(NM_000274.4):c.521-15_521-12delGTTT - OAT_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.533G>A r.533g>a p.(Trp178*) Both (homozygous) - 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 - - - - DNA SEQ - - GACR;OATD - PubMed: Dietz 1993 - - - - - - - - - 1 Anne Polvi
+/+? 5 c.533_537del r.(?) p.(Trp178*) Parent #1 - pathogenic g.126094117_126094121del g.124405548_124405552del - - OAT_000047 - PubMed: Renner et al.2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Renner et al.2012 - - - Germany German - - - - 1 Anne Polvi
+/. 5 c.539G>C r.539g>c p.Arg180Thr Both (homozygous) - pathogenic g.126094114C>G g.124405545C>G - - OAT_000017 Mutant OAT protein was inactive. PubMed: Mitchell 1989 - - Germline yes 0/19 FIN CON - - - DNA EMC, SEQ, Southern - - GACR;OATD - PubMed: Mitchell 1989 Families: Fin 6 and Fin 14 - - Finland Finnish - - - - 1 Anne Polvi
?/. 5 c.539G>C r.539g>c p.Arg180Thr Both (homozygous) - VUS g.126094114C>G g.124405545C>G - - OAT_000017 Mutant OAT protein was inactive. PubMed: Mitchell 1989 - - Germline yes 0/19 FIN CON - - - DNA EMC, SEQ, Southern - - GACR;OATD - PubMed: Mitchell 1989 - - - United States American - - - - 1 Anne Polvi
+/+? 5 c.539G>C r.(539g>c) p.(Arg180Thr) Parent #1 - pathogenic (recessive) g.126094114C>G g.124405545C>G Codon 180 AGG (Arg) > ACG (Thr) - OAT_000017 - PubMed: Mashima 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD Pat4 PubMed: Mashima 1992 - - - Ireland;Italy;Netherlands European - - - - 1 Anne Polvi
+/+? 5 c.539G>C r.(539g>c) p.(Arg180Thr) Both (homozygous) - pathogenic g.126094114C>G g.124405545C>G 539G>C - OAT_000017 - PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - - Finnish/American - - - - 1 Anne Polvi
+/. - c.539G>C r.(?) p.(Arg180Thr) Parent #2 - pathogenic g.126094114C>G g.124405545C>G OAT R180T - OAT_000017 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 21 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.539G>C r.(?) p.(Arg180Thr) Parent #2 - pathogenic g.126094114C>G g.124405545C>G OAT R180T - OAT_000017 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 22 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.539G>C r.(?) p.(Arg180Thr) Parent #2 - pathogenic g.126094114C>G g.124405545C>G OAT R180T - OAT_000017 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 28 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/+? 5 c.542C>T r.(542C>u) p.(Thr181Met) Both (homozygous) - pathogenic g.126094111G>A g.124405542G>A Codon 181 ACG>ATG: Thr>Met - OAT_000049 - PubMed: Mashima 1996 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mashima 1996 - - - Japan Japanese - - - - 1 Anne Polvi
+?/. 5 c.542C>T r.(?) p.(Thr181Met) Unknown - likely pathogenic (recessive) g.126094111G>A - c.542C>T - OAT_000049 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/+? 5 c.550G>A r.(550g>a) p.(Ala184Thr) Parent #1 - pathogenic g.126094103C>T g.124405534C>T - - OAT_000051 - PubMed: Michaud 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Michaud 1992 1 familie, 1 patient - - - - - - - - 1 Anne Polvi
+/+? 5 c.550_552del r.(?) p.(Ala184del) Parent #1 - 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 - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - Portugal Portugese - - - - 1 Anne Polvi
?/. - c.578G>A r.(?) p.(Ser193Asn) Unknown - VUS g.126094075C>T - - - OAT_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582C>T r.(?) p.(Tyr194=) Unknown - likely benign g.126094071G>A g.124405502G>A OAT(NM_001322966.1):c.582C>T (p.Y194=), OAT(NM_001322966.2):c.582C>T (p.Y194=) - OAT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582C>T r.(?) p.(Tyr194=) Unknown - likely benign g.126094071G>A - OAT(NM_001322966.1):c.582C>T (p.Y194=), OAT(NM_001322966.2):c.582C>T (p.Y194=) - OAT_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 5 c.583G>T r.(583g>u) p.(Asp195Tyr) Parent #1 - pathogenic g.126094070C>A g.124405501C>A Codon 195: GAT>TAT: Asp>Tyr - OAT_000052 - PubMed: Mashima 1996 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Mashima 1996 - - - Japan Japanese - - - - 1 Anne Polvi
+/. 5 c.596C>A r.596c>a p.Pro199Gln Parent #1 - pathogenic g.126094057G>T g.124405488G>T - - OAT_000008 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GACR;OATD - - - - - United Kingdom (Great Britain) England - - - - 1 Eva Trevisson
+/+? 5 c.596C>A r.(596c>a) p.(Pro199Gln) Parent #1 - pathogenic g.126094057G>T g.124405488G>T - - OAT_000008 - PubMed: Doimo 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Doimo 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+/+? 5 c.596C>A r.(596c>a) p.(Pro199Gln) Parent #1 - pathogenic g.126094057G>T g.124405488G>T - - OAT_000008 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+/+? 5 c.596C>A r.(596c>a) p.(Pro199Gln) Parent #1 - pathogenic g.126094057G>T g.124405488G>T - - OAT_000008 - PubMed: Sergouniotis 2012 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - - - - 1 Anne Polvi
+/. - c.596C>A r.(?) p.(Pro199Gln) Unknown - pathogenic g.126094057G>T g.124405488G>T OAT c.596C>A, p.Pro199Gln - OAT_000008 compound heterozygous PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 4 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.596C>A r.(?) p.(Pro199Gln) Parent #2 - pathogenic (recessive) g.126094057G>T g.124405488G>T - - OAT_000008 - PubMed: Mashima 1992 - - Germline - - - - - DNA DGGE, SEQ - - GACR;OATD Pat1 PubMed: Mashima 1992 adopted - - Canada - - - - - 1 Johan den Dunnen
+/+? 5 c.627T>A r.0 p.0 Parent #2 - pathogenic g.126094026A>T g.124405457A>T Codon 209 (exon 6) TAT (Try) > TAA (stop codon) - OAT_000040 - PubMed: Mashima 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD Pat3 PubMed: Mashima 1992 - - - England;Germany - - - - - 1 Anne Polvi
+?/. - c.627T>A r.(?) p.(Tyr209Ter) Both (homozygous) - likely pathogenic g.126094026A>T g.124405457A>T - - OAT_000040 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/10 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. 5 c.627T>A r.627u>a p.Tyr209* Parent #2 - pathogenic (recessive) g.126094026A>T - - - OAT_000040 - PubMed: Mashima 1992 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - GACR;OATD patient;Pat2 PubMed: Akaki 1992, PubMed: Mashima 1992 2-generation family, 1 affected - - England;France;Germany;Netherlands Europe - - - - 1 Anne Polvi
-/. - c.648+14A>G r.(=) p.(=) Unknown - benign g.126093991T>C g.124405422T>C OAT(NM_000274.4):c.648+14A>G - OAT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.648+14A>G r.(=) p.(=) Unknown - benign g.126093991T>C g.124405422T>C OAT(NM_000274.4):c.648+14A>G - OAT_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.661del r.(?) p.(Asp221Ilefs*9) Unknown - likely pathogenic (recessive) g.126092477del - c.661delG - OAT_000092 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 6 c.677C>T r.(?) p.(Ala226Val) Parent #1 - pathogenic g.126092461G>A g.124403892G>A - - OAT_000013 - PubMed: Brody 1992 - - Germline - - - - - DNA SEQ, SSCA - - GACR;OATD - - - - - - white - - - - 1 Eva Trevisson
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.