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.

38 entries on 1 page. Showing entries 1 - 38.
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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     
+/. 10 c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G - - OAT_000016 - PubMed: Brody 1992 - - Unknown - - - - - DNA SEQ - - GACR;OATD - - - - - Finland Finnish - - - - 1 Eva Trevisson
+/. 10 c.1205T>C r.1205u>c p.Leu402Pro Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G - - OAT_000016 14 Finnish families (hom). Finnish major mutation. Mutant OAT protein was inactive. PubMed: Mitchell 1989 - - Germline yes 0/19 FIN CON - - - DNA EMC - - GACR;OATD - PubMed: Mitchell 1989 14 Finnish families - - Finland Finnish - - - - 14 Anne Polvi
+/+? 10 c.1205T>C r.(1205u>c) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G 1205T>C - OAT_000016 Finnish major mutation. 14 Finnish families (hom). Mutation leads to production of inactive OAT protein. PubMed: Mitchell 1989, PubMed: Brody 1992 - - Germline yes - - - - DNA SEQ - - GACR;OATD - PubMed: Brody 1992 1 familie, 1 patient - - Finland Finnish - - - - 1 Anne Polvi
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 1 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 2 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 3 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 4 PubMed: Peltola 2001 - F - - - - - - guanidinoacetic acid supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 5 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 6 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 7 PubMed: Peltola 2001 - F - - - - - - guanidinoacetic acid supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 8 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 9 PubMed: Peltola 2001 - F - - - - - - guanidinoacetic acid supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 10 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 11 PubMed: Peltola 2001 - F - - - - - - guanidinoacetic acid supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 12 PubMed: Peltola 2001 - M - - - - - - guanidinoacetic acid supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 13 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 14 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 15 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 16 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 17 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 18 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 19 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Parent #1 - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 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
+/. - c.1205T>C r.(?) p.(Leu402Pro) Parent #1 - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 21 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Parent #1 - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 22 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 23 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 24 PubMed: Peltola 2001 - M - - - - - - creatine supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 25 PubMed: Peltola 2001 - M - - - - - - creatine supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 26 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 27 PubMed: Peltola 2001 - F - - - - - - creatine supplementation 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Parent #1 - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 28 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 29 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 30 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 31 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 32 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 33 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 34 PubMed: Peltola 2001 - F - - - - - - - 1 LOVD
+/. - c.1205T>C r.(?) p.(Leu402Pro) Both (homozygous) - pathogenic g.126086626A>G g.124398057A>G OAT L402P - OAT_000016 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Peltola 2001 - - Unknown ? - - - - DNA ? - - GACR;OATD 35 PubMed: Peltola 2001 - M - - - - - - - 1 LOVD
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