RGD:151806867 Rat Genome Database

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Variant: RGD:151806867 -  Homo sapiens

RGD ID: 151806867
RS ID: rs2125501295
ClinVar ID: CV1462623
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 197,404,743
GRCh38 1 197,435,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257966.2:c.2141+1G>A
NM_001193640.2:c.3413+1G>A
NM_001257965.2:c.3677+1G>A
NM_201253.3:c.3749+1G>A
More... 		07/14/2021 splice donor 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_011509365
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257965
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:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:10508521   PMID:16199547   PMID:22065545   PMID:23379534   PMID:25412400   PMID:26957898   PMID:28041643   PMID:28492532   PMID:29391521  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001991452 CLINVAR
dbSNP (RS) rs2125501295 CLINVAR
MedGen C1838647 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 600105 CLINVAR
  604210 CLINVAR
  613835 CLINVAR