RGD:14732076 Rat Genome Database

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Variant: RGD:14732076 -  Homo sapiens

RGD ID: 14732076
RS ID: rs1555399976
ClinVar ID: CV643404
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 48,800,901
GRCh38 15 48,508,704
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000138.4:c.1715A>G
NP_000129.3:p.Asp572Gly
NM_000138.5:c.1715A>G
LRG_778t1:c.1715A>G
More... 		12/28/2018 missense variant uncertain significance Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25652356   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000818138 CLINVAR
dbSNP (RS) rs1555399976 CLINVAR
MedGen C0024796 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 134797 CLINVAR
  154700 CLINVAR
SNOMED CT 19346006 CLINVAR