RGD:8645318 Rat Genome Database

Variant: RGD:8645318 - Homo sapiens

RGD ID:

8645318

RS ID:

rs34627040

ClinVar ID:

CV104726

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC124904198 RPE65

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	68,897,002
GRCh38	1	68,431,319

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.68431319G>A NC_000001.10:g.68897002G>A NP_000320.1:p.Ala434Val Q16518:p.Ala434Val More...	12/22/2023	missense variant	benign\|likely benign\|not provided	AllHighlyPenetrant; AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; Congenital retinal blindness; Leber's amaurosis; none provided; Recessive RPE65 retinopathy; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement; RP 20; RPE65-Related Leber Congenital Amaurosis; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

Leber congenital amaurosis (IAGP)

Leber congenital amaurosis 2 (IAGP)

retinitis pigmentosa (IAGP)

retinitis pigmentosa 20 (IAGP)

retinitis pigmentosa 87 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RPE65
Accession:	NM_001406857
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	342

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP RQAFEFPQINYQKYCGKPYTYVYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_001406856
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	342

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK GFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP RQAFEFPQINYQKYCGKPYTYVYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:	RPE65
Accession:	NM_000329
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	434

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

Gene Symbol:	RPE65
Accession:	NM_001406853
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	398

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

Gene Symbol:	RPE65
Accession:	NM_001406859
Location:	INTRON

Gene Symbol:	RPE65
Accession:	NM_001406860
Location:	INTRON

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:9501220	PMID:10090910	PMID:16150724	PMID:19431183	PMID:19920137	PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000085162	CLINVAR
	RCV000327489	CLINVAR
	RCV000539372	CLINVAR
	RCV001096917	CLINVAR
	RCV001096918	CLINVAR
	RCV001273331	CLINVAR
	RCV002490739	CLINVAR
	RCV003460768	CLINVAR
dbSNP (RS)	rs34627040	CLINVAR
MedGen	C0035334	CLINVAR
	C0339527	CLINVAR
	C1859844	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
	CN305526	CLINVAR
NCBI Gene	RPE65	CLINVAR
OMIM	180069	CLINVAR
	204000	CLINVAR
	204100	CLINVAR
	268000	CLINVAR
	613794	CLINVAR
	618697	CLINVAR
SNOMED CT	193413001	CLINVAR
	28835009	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:8645318 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8645318 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar