RGD:13795149 Rat Genome Database

Variant: RGD:13795149 - Homo sapiens

RGD ID:

13795149

RS ID:

rs767528365

ClinVar ID:

CV551519

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC124904198 RPE65

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	68,910,276
GRCh38	1	68,444,593

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000001.11:g.68444593C>G NP_000320.1:p.Ala145Pro NC_000001.10:g.68910276C>G NG_008472.1:g.10367G>C More...	02/20/2024	missense variant	likely pathogenic\|uncertain significance	Cone-rod degeneration; Cone/cone-rod dystrophy; Recessive RPE65 retinopathy

Disease Annotations Click to see Annotation Detail View

cone-rod dystrophy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cone/cone-rod dystrophy (IAGP)

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RPE65
Accession:	NM_001406859
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETL ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED NGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKVTCFSVDFRFNQNVSSLSGIVLLP HVYT*

Gene Symbol:	RPE65
Accession:	NM_000329
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETL ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED NGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDET IWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_001406857
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	53

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETLETIKQVDLCNYV SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_001406856
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	53

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETLETIKQVDLCNYV SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_001406853
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH RRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCF GKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYM DCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKN ARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYG LGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARA EVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_001406860
Location:	EXON
Amino Acid Prediction:	A to P (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYPCTETNFITKINPETL ETIKQVGHSAR*

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000678616	CLINVAR
	RCV003768029	CLINVAR
dbSNP (RS)	rs767528365	CLINVAR
MedGen	C4085590	CLINVAR
	CN305526	CLINVAR
NCBI Gene	RPE65	CLINVAR
OMIM	120970	CLINVAR
	180069	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13795149 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13795149 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar