RGD:150515888 Rat Genome Database

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Variant: RGD:150515888 -  Homo sapiens

RGD ID: 150515888
RS ID: rs2288249
ClinVar ID: CV1216365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CREB3L1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 46,334,239
GRCh38 11 46,312,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_052854.4:c.962+18G>A
NG_033264.1:g.40051G>A
NC_000011.10:g.46312688G>A
NC_000011.9:g.46334239G>A
 12/17/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CREB3L1
Accession:NM_052854
Location:INTRON

Gene Symbol:CREB3L1
Accession:XM_006718380
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001608556 CLINVAR
dbSNP (RS) rs2288249 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CREB3L1 CLINVAR
OMIM 616215 CLINVAR