RGD:11626579 Rat Genome Database

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Variant: RGD:11626579 -  Homo sapiens

RGD ID: 11626579
RS ID: rs369701764
ClinVar ID: CV346731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  LOC127895077  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 46,912,485
GRCh38 21 45,492,571
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
NG_011903.1:g.92389G>C
NC_000021.9:g.45492571G>C
NC_000021.8:g.46912485G>C
NM_030582.4:c.2727+7G>C
More... 		10/18/2021 intron variant likely benign|uncertain significance infancy <1 / 1 000 000 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_130444
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_001379500
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_030582
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000266078 CLINVAR
  RCV002057771 CLINVAR
  RCV003972434 CLINVAR
dbSNP (RS) rs369701764 CLINVAR
MedGen C1849409 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL18A1 CLINVAR
OMIM 120328 CLINVAR
  267750 CLINVAR