RGD:405231082 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405231082 -  Homo sapiens

RGD ID: 405231082
ClinVar ID: CV3073417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL27A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 117,004,527
GRCh38 9 114,242,247
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032888.4:c.2880+16C>T
NG_034260.1:g.91703C>T
NC_000009.12:g.114242247C>T
NC_000009.11:g.117004527C>T
08/21/2023 intron variant likely benign none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003734865 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COL27A1 CLINVAR
OMIM 608461 CLINVAR