RGD:11645349 Rat Genome Database

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Variant: RGD:11645349 -  Homo sapiens

RGD ID: 11645349
RS ID: rs886051223
ClinVar ID: CV332237
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 48,700,744
GRCh38 15 48,408,547
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
LRG_778t1:c.*2443G>T
LRG_778:g.242242G>T
NG_008805.2:g.242242G>T
NC_000015.10:g.48408547C>A
More... 		06/14/2016 3 prime utr variant uncertain significance all ages|neonatal 1-5 / 10 000|<1 / 1 000 000 Acromicric skeletal dysplasia; Marfan syndrome type 1; Marfan syndrome, classic; MARFAN SYNDROME, TYPE I; Marfan's syndrome; Mesodermal dysmorphodystrophy congenital; Overlap connective tissue disease; 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_001406716
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_000138
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000265165 CLINVAR
  RCV000266861 CLINVAR
  RCV000278164 CLINVAR
  RCV000316924 CLINVAR
  RCV000317933 CLINVAR
  RCV000324240 CLINVAR
  RCV000357999 CLINVAR
  RCV000374991 CLINVAR
dbSNP (RS) rs886051223 CLINVAR
MedGen C0013581 CLINVAR
  C0024796 CLINVAR
  C0265287 CLINVAR
  C0265313 CLINVAR
  C1858556 CLINVAR
  C1861456 CLINVAR
  C3489726 CLINVAR
  C4707243 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