rs562037932 Rat Genome Database

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Variant: rs562037932 -  Homo sapiens

RGD ID: 26909384
RS ID: rs562037932
ClinVar ID: CV856024
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904198  RPE65  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 68,903,958
GRCh38 1 68,438,275
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.1040G>A
NG_008472.2:g.16685G>A
NC_000001.11:g.68438275C>T
NC_000001.10:g.68903958C>T
More... 		12/12/2024 missense variant pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records AMAUROSIS CONGENITA OF LEBER II; Amaurosis congenita of Leber, type 2; Inherited retinal dystrophy; Recessive RPE65 retinopathy; Retinitis pigmentosa 20; RP 20; RPE65-Related Leber Congenital Amaurosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RPE65
Accession:NM_001406853
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCF
GKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYM
DCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLHENWEEVKKN
ARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYG
LGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARA
EVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_000329
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETL
ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED
NGFLIVDLCCWKGFEFVYNYLYLANLHENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDET
IWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_001406859
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYH
RRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETL
ETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYED
NGFLIVDLCCWKGFEFVYNYLYLANLHENWEEVKKNARKAPQPEVRRYVLPLNIDKVTCFSVDFRFNQNVSSLSGIVLLP
HVYT*

Gene Symbol:RPE65
Accession:NM_001406857
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV
SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF
VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK
GFEFVYNYLYLANLHENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP
RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS
PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

Gene Symbol:RPE65
Accession:NM_001406856
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEKRIVITEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYV
SVNGATAHPHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVF
VETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYLNNKYRTSPFNLFHHINTYEDNGFLIVDLCCWK
GFEFVYNYLYLANLHENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGP
RQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVS
PGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS*

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:25741868   PMID:28492532   PMID:31630094   PMID:33952291   PMID:35129589   PMID:36460718  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001073373 CLINVAR
  RCV002554658 CLINVAR
  RCV003469271 CLINVAR
  RCV004801928 CLINVAR
dbSNP (RS) rs562037932 CLINVAR
MedGen C0854723 CLINVAR
  C1859844 CLINVAR
  CN305526 CLINVAR
NCBI Gene RPE65 CLINVAR
OMIM 180069 CLINVAR
  204100 CLINVAR
  613794 CLINVAR
SNOMED CT 314407005 CLINVAR