RGD:155994689 Rat Genome Database

Send us a Message



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

Variant: RGD:155994689 -  Homo sapiens

RGD ID: 155994689
ClinVar ID: CV2095676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 58,080,560
GRCh38 3 58,094,833
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.788-3C>T
NM_001164318.2:c.788-3C>T
NM_001164319.2:c.788-3C>T
NM_001457.4:c.788-3C>T
More...
12/15/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FLNB
Accession:NM_001164319
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001457
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164317
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164318
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002908325 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR