RGD:28894482 Rat Genome Database

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Variant: RGD:28894482 -  Homo sapiens

RGD ID: 28894482
RS ID: rs1429931885
ClinVar ID: CV863232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRB1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 197,447,108
GRCh38 1 197,477,978
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.*99G>T
NC_000001.10:g.197447108G>T
NR_047563.2:n.4273G>T
NR_047564.2:n.4723G>T
More... 		01/13/2018 3 prime utr variant uncertain significance 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_001193640
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:NM_201253
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:NM_001257965
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:NM_001257966
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_047416574
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_047416572
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_017000852
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_047416573
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_047416575
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_011509369
Location:3UTRS;EXON

Gene Symbol:CRB1
Accession:XM_011509367
Location:3UTRS;EXON

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

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

Gene Symbol:CRB1
Accession:XM_011509365
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001101413 CLINVAR
  RCV001101414 CLINVAR
  RCV001101415 CLINVAR
dbSNP (RS) rs1429931885 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