RGD:13525497 Rat Genome Database

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Variant: RGD:13525497 -  Homo sapiens

RGD ID: 13525497
RS ID: rs146229370
ClinVar ID: CV500951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 58,112,508
GRCh38 3 58,126,781
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164319.2:c.4222+19A>C
NM_001457.4:c.4222+19A>C
NM_001457.3:c.4222+19A>C
NG_012801.1:g.123382A>C
More... 		01/18/2024 intron variant benign|likely benign AllHighlyPenetrant; none provided

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

Gene Symbol:FLNB
Accession:NM_001164319
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001164317
Location:INTRON

Gene Symbol:FLNB
Accession:NM_001457
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000603220 CLINVAR
  RCV002064254 CLINVAR
dbSNP (RS) rs146229370 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR