RGD:151348317 Rat Genome Database

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Variant: RGD:151348317 -  Homo sapiens

RGD ID: 151348317
RS ID: rs2125472205
ClinVar ID: CV1323984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 197,391,087
GRCh38 1 197,421,957
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.1792+1G>A
NC_000001.11:g.197421957G>A
NC_000001.10:g.197391087G>A
NG_008483.2:g.225496G>A
More... 		01/03/2022 splice donor variant likely pathogenic 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:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416574
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257966
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416573
Location:INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257965
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509365
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:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001807895 CLINVAR
dbSNP (RS) rs2125472205 CLINVAR
MedGen C1838647 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 600105 CLINVAR
  604210 CLINVAR