RGD:151881173 Rat Genome Database

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Variant: RGD:151881173 -  Homo sapiens

RGD ID: 151881173
RS ID: rs62645755
ClinVar ID: CV1475631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 197,391,086
GRCh38 1 197,421,956
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001193640.2:c.1792G>A
NM_001257965.2:c.1921G>A
NM_001257966.2:c.2128G>A
NM_201253.3:c.2128G>A
More... 		11/17/2021 missense variant likely pathogenic Leber congenital amaurosis 8; RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM; RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257966
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416574
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416573
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509365
Location:INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257965
Location:INTRON

Gene Symbol:CRB1
Accession:NR_047564
Location:INTRON;NON-CODING

Gene Symbol:CRB1
Accession:NR_047563
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:20591486   PMID:20956273   PMID:28041643   PMID:28492532   PMID:28559085  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001961694 CLINVAR
dbSNP (RS) rs62645755 CLINVAR
MedGen C1838647 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 600105 CLINVAR
  604210 CLINVAR
  613835 CLINVAR