RGD:12839100 Rat Genome Database

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Variant: RGD:12839100 -  Homo sapiens

RGD ID: 12839100
RS ID: rs144540627
ClinVar ID: CV368174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 127,866,385
GRCh38 5 128,530,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008750.1:g.12351G>A
NC_000005.10:g.128530692C>T
NC_000005.9:g.127866385C>T
NP_001990.2:p.Pro113=
More... 		08/19/2023 synonymous variant benign|likely benign AllHighlyPenetrant; Arachnodactyly, contractural Beals type; Arthrogryposis, distal, type 9; Beals syndrome; Beals-Hecht syndrome; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; none provided; Thoracic aortic aneurysms and dissections
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FBN2
Accession:XM_017009228
Location:EXON

Gene Symbol:FBN2
Accession:NM_001999
Location:EXON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000428194 CLINVAR
  RCV000868116 CLINVAR
  RCV001810888 CLINVAR
  RCV002314143 CLINVAR
dbSNP (RS) rs144540627 CLINVAR
MedGen C0220668 CLINVAR
  C3661900 CLINVAR
  C4707243 CLINVAR
  CN169374 CLINVAR
NCBI Gene FBN2 CLINVAR
OMIM 121050 CLINVAR
  612570 CLINVAR
SNOMED CT 205821003 CLINVAR