RGD:8691046 Rat Genome Database

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Variant: RGD:8691046 -  Homo sapiens

RGD ID: 8691046
RS ID: rs140582
ClinVar ID: CV141005
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 48,787,793
GRCh38 15 48,495,596
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008805.2:g.155193T>C
NC_000015.10:g.48495596A>G
NC_000015.9:g.48787793A>G
LRG_778t1:c.2420-8T>C
More... 		01/14/2019 intron variant benign|likely benign all ages|neonatal 1-5 / 10 000|<1 / 1 000 000 Acromicric skeletal dysplasia; AllHighlyPenetrant; Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Mesodermal dysmorphodystrophy congenital; none provided; Overlap connective tissue disease; Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections; WM Syndrome
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ectopia lentis  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406716
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_000138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000124997 CLINVAR
  RCV000271453 CLINVAR
  RCV000301668 CLINVAR
  RCV000305268 CLINVAR
  RCV000326569 CLINVAR
  RCV000359876 CLINVAR
  RCV000365668 CLINVAR
  RCV000404502 CLINVAR
  RCV000404732 CLINVAR
  RCV000550392 CLINVAR
  RCV001796723 CLINVAR
dbSNP (RS) rs140582 CLINVAR
MedGen C0013581 CLINVAR
  C0024796 CLINVAR
  C0265287 CLINVAR
  C0265313 CLINVAR
  C1858556 CLINVAR
  C1861456 CLINVAR
  C3489726 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 102370 CLINVAR
  134797 CLINVAR
  154700 CLINVAR
  184900 CLINVAR
  604308 CLINVAR
SNOMED CT 19346006 CLINVAR
  254090007 CLINVAR
  28557005 CLINVAR
  74969002 CLINVAR