RGD:12843712 Rat Genome Database

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Variant: RGD:12843712 -  Homo sapiens

RGD ID: 12843712
RS ID: rs201148582
ClinVar ID: CV367354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 57,994,595
GRCh38 3 58,008,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012801.1:g.5469G>C
NC_000003.12:g.58008868G>C
NC_000003.11:g.57994595G>C
NM_001164317.2:c.292+12G>C
More... 		12/14/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided
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_001164319
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164318
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000436702 CLINVAR
  RCV001145702 CLINVAR
  RCV002061651 CLINVAR
dbSNP (RS) rs201148582 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
  CN239400 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR