RGD:13484990 Rat Genome Database

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Variant: RGD:13484990 -  Homo sapiens

RGD ID: 13484990
RS ID: rs1555859077
ClinVar ID: CV442321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,893,900
GRCh38 21 45,473,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.45473986G>T
NC_000021.8:g.46893900G>T
NG_011903.1:g.73804G>T
NM_001379500.1:c.738+5G>T
More... 		10/31/2016 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:COL18A1
Accession:NM_001379500
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_030582
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_130444
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518615 CLINVAR
dbSNP (RS) rs1555859077 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene COL18A1 CLINVAR
OMIM 120328 CLINVAR