RGD:153347760 Rat Genome Database

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Variant: RGD:153347760 -  Homo sapiens

RGD ID: 153347760
RS ID: rs2106947027
ClinVar ID: CV1694808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 58,063,022
GRCh38 3 58,077,295
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.541+1G>A
NM_001164318.2:c.541+1G>A
NM_001164319.2:c.541+1G>A
NM_001457.4:c.541+1G>A
More... 		03/01/2020 splice donor variant likely pathogenic Connective tissue disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLNB
Accession:NM_001164317
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001457
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164318
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164319
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002278739 CLINVAR
dbSNP (RS) rs2106947027 CLINVAR
MedGen C0009782 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR