RGD:156067940 Rat Genome Database

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Variant: RGD:156067940 -  Homo sapiens

RGD ID: 156067940
ClinVar ID: CV1975521
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FN1  LOC122861289  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 216,285,383
GRCh38 2 215,420,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001306129.2:c.1675+13A>G
NM_001306130.2:c.1675+13A>G
NM_001306131.2:c.1675+13A>G
NM_001306132.2:c.1675+13A>G
More... 		05/25/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FN1
Accession:NM_212474
Location:INTRON

Gene Symbol:FN1
Accession:NM_212476
Location:INTRON

Gene Symbol:FN1
Accession:NM_212478
Location:INTRON

Gene Symbol:FN1
Accession:NM_002026
Location:INTRON

Gene Symbol:FN1
Accession:NM_212482
Location:INTRON

Gene Symbol:FN1
Accession:NM_054034
Location:INTRON

Gene Symbol:FN1
Accession:NM_001306132
Location:INTRON

Gene Symbol:FN1
Accession:NM_001306131
Location:INTRON

Gene Symbol:FN1
Accession:NM_001306130
Location:INTRON

Gene Symbol:FN1
Accession:NM_001306129
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365523
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365524
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365520
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365518
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365522
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365519
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365521
Location:INTRON

Gene Symbol:FN1
Accession:NM_001365517
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002591186 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FN1 CLINVAR
  LOC122861289 CLINVAR
OMIM 135600 CLINVAR