RGD:14396952 Rat Genome Database

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Variant: RGD:14396952 -  Homo sapiens

RGD ID: 14396952
RS ID: rs199910738
ClinVar ID: CV613180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL18A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 46,912,627
GRCh38 21 45,492,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_030582.4:c.2754C>T
NG_011903.1:g.92531C>T
NC_000021.9:g.45492713C>T
NP_085059.2:p.Pro918=
More... 		09/09/2021 synonymous variant likely benign|conflicting interpretations of pathogenicity none provided

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

Gene Symbol:COL18A1
Accession:NM_130444
Location:INTRON

Gene Symbol:COL18A1
Accession:NM_001379500
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000762043 CLINVAR
dbSNP (RS) rs199910738 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL18A1 CLINVAR
OMIM 120328 CLINVAR