RGD:150439918 Rat Genome Database

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Variant: RGD:150439918 -  Homo sapiens

RGD ID: 150439918
RS ID: rs117655959
ClinVar ID: CV1247788
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBLN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 45,914,967
GRCh38 22 45,519,087
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001996.4:c.185+300A>G
NM_006485.4:c.185+300A>G
NM_006486.3:c.185+300A>G
NM_006487.3:c.185+300A>G
More... 		06/19/2021 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FBLN1
Accession:NM_006487
Location:INTRON

Gene Symbol:FBLN1
Accession:NM_001996
Location:INTRON

Gene Symbol:FBLN1
Accession:NM_006486
Location:INTRON

Gene Symbol:FBLN1
Accession:NM_006485
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001666155 CLINVAR
dbSNP (RS) rs117655959 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FBLN1 CLINVAR
OMIM 135820 CLINVAR