RGD:11614482 Rat Genome Database

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Variant: RGD:11614482 -  Homo sapiens

RGD ID: 11614482
RS ID: rs533502309
ClinVar ID: CV332254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 48,701,703
GRCh38 15 48,409,506
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.*1484C>T
LRG_778:g.241283C>T
NG_008805.2:g.241283C>T
NC_000015.10:g.48409506G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign|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; Thoracic aortic aneurysms and dissections; WM Syndrome

Variant Details
Variant Transcripts
Gene Symbol:FBN1
Accession:NM_000138
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_001406716
Location:3UTRS;EXON

Gene Symbol:FBN1
Accession:NM_001406717
Location:INTRON

Gene Symbol:FBN1
Accession:NM_001406718
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000277465 CLINVAR
  RCV000302470 CLINVAR
  RCV000308119 CLINVAR
  RCV000332570 CLINVAR
  RCV000362775 CLINVAR
  RCV000366545 CLINVAR
  RCV000368733 CLINVAR
dbSNP (RS) rs533502309 CLINVAR
MedGen C0024796 CLINVAR
  C0265287 CLINVAR
  C0265313 CLINVAR
  C1861456 CLINVAR
  C3489726 CLINVAR
  C3541518 CLINVAR
  C4707243 CLINVAR
NCBI Gene FBN1 CLINVAR
OMIM 102370 CLINVAR
  129600 CLINVAR
  134797 CLINVAR
  154700 CLINVAR
  184900 CLINVAR
SNOMED CT 19346006 CLINVAR
  254090007 CLINVAR
  28557005 CLINVAR