RGD:14722170 Rat Genome Database

Send us a Message



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

Variant: RGD:14722170 -  Homo sapiens

RGD ID: 14722170
RS ID: rs17058819
ClinVar ID: CV660086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 58,082,139
GRCh38 3 58,096,412
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164317.2:c.984+194C>G
NM_001164318.2:c.984+194C>G
NM_001164319.2:c.984+194C>G
NM_001457.4:c.984+194C>G
More...
06/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FLNB
Accession:NM_001164318
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164317
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001457
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164319
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000831988 CLINVAR
dbSNP (RS) rs17058819 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR