RGD:8594886 Rat Genome Database

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Variant: RGD:8594886 -  Homo sapiens

RGD ID: 8594886
RS ID: rs121965060
ClinVar ID: CV15221
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OAT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 126,097,466
GRCh38 10 124,408,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008861.1:g.15054C>G
NC_000010.11:g.124408897G>C
NC_000010.10:g.126097466G>C
NP_000265.1:p.Gln90Glu
More... 		10/24/2022 5 prime utr variant|missense|missense variant pathogenic|uncertain significance childhood 1-9 / 100 000 Girate atrophy of the retina; Gyrate atrophy; Gyrate atrophy of choroid and retina; Hyperornithinemia with gyrate atrophy of choroid and retina; OAT deficiency; OKT deficiency; Ornithine ketoacid aminotransferase deficiency
Disease Annotations     Click to see Annotation Detail View
gyrate atrophy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:OAT
Accession:NM_001171814
Location:5UTRS;EXON

Gene Symbol:OAT
Accession:NM_001322974
Location:5UTRS;EXON

Gene Symbol:OAT
Accession:NM_001322966
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322968
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322965
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322967
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_000274
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322969
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322970
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFSKLAHLQRFAVLSRGVHSSVASATSVATKKTVQGPPTSDDIFEREYKYGAHNYHPLPVALERGKGIYLWDVEGRKYFD
FLSSYSAVNEGHCHPKIVNALKSQVDKLTLTSRAFYNNVLGEYEEYITKLFNYHKVLPMNTGVEAGETACKLARKWGYTV
KGIQKYKAKIVFAAGNFWGRTLSAISSSTDPTSYDGFGPFMPGFDIIPYNDLPALERALQDPNVAAFMVEPIQGEAGVVV
PDPGYLMGVRELCTRHQVLFIADEIQTGLARTGRWLAVDYENVRPDIVLLGKALSGGLYPVSAVLCDDDIMLTIKPGEHG
STYGGNPLGCRVAIAALEVLEEENLAENADKLGIILRNELMKLPSDVVTAVRGKGLLNAIVIKETKDWDAWKVCLRLRDN
GLLAKPTHGDIIRFAPPLVIKEDELRESIEIINKTILSF*

Gene Symbol:OAT
Accession:NM_001322971
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:7668253   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000000205 CLINVAR
dbSNP (RS) rs121965060 CLINVAR
MedGen C0018425 CLINVAR
NCBI Gene OAT CLINVAR
OMIM 258870 CLINVAR
  613349 CLINVAR
OMIM Allele 613349.0039 CLINVAR
SNOMED CT 276426004 CLINVAR