RGD:405247413 Rat Genome Database

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Variant: RGD:405247413 -  Homo sapiens

RGD ID: 405247413
ClinVar ID: CV2976630
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLNB  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 57,994,519
GRCh38 3 58,008,792
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.228G>C
NM_001164318.2:c.228G>C
NM_001164319.2:c.228G>C
NM_001457.4:c.228G>C
More...
02/22/2023 missense variant uncertain significance none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003685673 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLNB CLINVAR
OMIM 603381 CLINVAR