RGD:28891174 Rat Genome Database

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Variant: RGD:28891174 -  Homo sapiens

RGD ID: 28891174
RS ID: rs201043325
ClinVar ID: CV887524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 46,901,954
GRCh38 21 45,482,040
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379500.1:c.1674+15G>A
NM_130444.3:c.2919+15G>A
NG_011903.1:g.81858G>A
NC_000021.9:g.45482040G>A
More... 		06/25/2021 intron variant likely benign|uncertain significance Myopia retinal detachment encephalocele; none provided; RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL18A1
Accession:NM_030582
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_001379500
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_130444
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001139293 CLINVAR
  RCV002070653 CLINVAR
dbSNP (RS) rs201043325 CLINVAR
MedGen C1849409 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL18A1 CLINVAR
OMIM 120328 CLINVAR
  267750 CLINVAR