RGD:21404994 Rat Genome Database

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Variant: RGD:21404994 -  Homo sapiens

RGD ID: 21404994
RS ID: rs890453675
ClinVar ID: CV800684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 197,411,423
GRCh38 1 197,442,293
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.2397+1G>A
NM_201253.3:c.4005+1G>A
NC_000001.11:g.197442293G>A
NM_001193640.2:c.3669+1G>A
More... 		03/20/2023 non-coding transcript variant pathogenic Congenital retinal blindness; Leber congenital amaurosis 8; Leber's amaurosis; 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:NR_047564
Location:EXON;NON-CODING

Gene Symbol:CRB1
Accession:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509365
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257966
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416573
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257965
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416574
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:15024725   PMID:17576681   PMID:20683928   PMID:23379534   PMID:25741868   PMID:28492532   PMID:31456290  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001003000 CLINVAR
  RCV001250622 CLINVAR
  RCV002549197 CLINVAR
dbSNP (RS) rs890453675 CLINVAR
MedGen C0339527 CLINVAR
  C1838647 CLINVAR
  C3151202 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 204000 CLINVAR
  600105 CLINVAR
  604210 CLINVAR
  613835 CLINVAR
SNOMED CT 193413001 CLINVAR