RGD:402518353 Rat Genome Database

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Variant: RGD:402518353 -  Homo sapiens

RGD ID: 402518353
ClinVar ID: CV2870867
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 58,118,672
GRCh38 3 58,132,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164318.2:c.4514+14A>G
NM_001164319.2:c.4514+14A>G
NM_001457.4:c.4514+14A>G
NM_001164317.2:c.4607+14A>G
More...
01/26/2024 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FLNB
Accession:NM_001457
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164318
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164317
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164319
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003547569 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR