RGD:26911037 Rat Genome Database

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Variant: RGD:26911037 -  Homo sapiens

RGD ID: 26911037
RS ID: rs1664686689
ClinVar ID: CV857122
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 197,397,132
GRCh38 1 197,428,002
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.2128+6046G>T
NM_001193640.2:c.2340+1G>T
NM_001257965.2:c.2469+1G>T
NM_201253.3:c.2676+1G>T
More... 		07/25/2019 intron variant likely pathogenic
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:XM_011509367
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509369
Location:INTRON

Gene Symbol:CRB1
Accession:NM_201253
Location:INTRON

Gene Symbol:CRB1
Accession:XM_017000852
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257966
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416575
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416573
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001257965
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416572
Location:INTRON

Gene Symbol:CRB1
Accession:NM_001193640
Location:INTRON

Gene Symbol:CRB1
Accession:XM_011509365
Location:INTRON

Gene Symbol:CRB1
Accession:XM_047416574
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 RCV001075834 CLINVAR
dbSNP (RS) rs1664686689 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene CRB1 CLINVAR
OMIM 604210 CLINVAR
SNOMED CT 314407005 CLINVAR