RGD:11650609 Rat Genome Database

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Variant: RGD:11650609 -  Homo sapiens

RGD ID: 11650609
RS ID: rs886045782
ClinVar ID: CV278311
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 197,237,348
GRCh38 1 197,268,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.197268218G>A
NC_000001.10:g.197237348G>A
NM_001257965.2:c.-212-34222G>A
NM_001193640.1:c.-195G>A
More... 		01/13/2018 5 prime utr variant|intron variant uncertain significance all ages <1 / 1 000 000 Pigmented paravenous chorioretinal atrophy; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CRB1
Accession:NM_001257965
Location:5UTRS;INTRON

Gene Symbol:CRB1
Accession:XM_047416573
Location:5UTRS;INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416574
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257966
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509365
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 Information

Database Acc Id Source(s)
ClinVar RCV000293780 CLINVAR
  RCV000348739 CLINVAR
  RCV000389181 CLINVAR
dbSNP (RS) rs886045782 CLINVAR
MedGen C0035334 CLINVAR
  C1868310 CLINVAR
  C3151202 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 172870 CLINVAR
  268000 CLINVAR
  604210 CLINVAR
  613835 CLINVAR
SNOMED CT 28835009 CLINVAR