RGD:11627021 Rat Genome Database

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Variant: RGD:11627021 -  Homo sapiens

RGD ID: 11627021
RS ID: rs755778352
ClinVar ID: CV351869
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,888,706
GRCh38 21 45,468,792
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.68610C>T
NC_000021.9:g.45468792C>T
NC_000021.8:g.46888706C>T
NM_030582.4:c.1191+6C>T
More... 		01/13/2018 intron variant uncertain significance infancy <1 / 1 000 000 Myopia retinal detachment encephalocele; 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 Information

Database Acc Id Source(s)
ClinVar RCV000273105 CLINVAR
dbSNP (RS) rs755778352 CLINVAR
MedGen C1849409 CLINVAR
NCBI Gene COL18A1 CLINVAR
OMIM 120328 CLINVAR
  267750 CLINVAR