RGD:15176256 Rat Genome Database

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Variant: RGD:15176256 -  Homo sapiens

RGD ID: 15176256
RS ID: rs764589805
ClinVar ID: CV762067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 68,903,900
GRCh38 1 68,438,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000329.3:c.1098G>A
NG_008472.2:g.16743G>A
NC_000001.11:g.68438217C>T
NC_000001.10:g.68903900C>T
More... 		02/26/2019 synonymous variant likely benign AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; Retinitis pigmentosa 20; RP 20; RPE65-Related Leber Congenital Amaurosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RPE65
Accession:NM_001406853
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCF
GKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYM
DCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKN
ARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYG
LGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARA
EVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_001406856
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV
SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF
VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK
GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP
RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS
PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_001406857
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 274
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV
SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF
VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK
GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP
RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS
PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_000329
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETL
ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED
NGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDET
IWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_001406859
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETL
ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED
NGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKVTCFSVDFRFNQNVSSLSGIVLLP
HVYT*

Gene Symbol:RPE65
Accession:NM_001406860
Location:INTRON

Gene Symbol:LOC124904198
Accession:XR_007066164
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000928876 CLINVAR
dbSNP (RS) rs764589805 CLINVAR
MedGen C1859844 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 180069 CLINVAR
  204100 CLINVAR
  613794 CLINVAR