RGD:11603272 Rat Genome Database

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Variant: RGD:11603272 -  Homo sapiens

RGD ID: 11603272
RS ID: rs536827304
ClinVar ID: CV321750
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBLN5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 92,336,205
GRCh38 14 91,869,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_364t1:c.*363C>T
LRG_364:g.82842C>T
NG_008254.1:g.82842C>T
NC_000014.9:g.91869861G>A
More... 		01/13/2018 3 prime utr variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cutis laxa  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:FBLN5
Accession:NM_001384161
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_006329
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384162
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384160
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384159
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:NM_001384158
Location:3UTRS;EXON

Gene Symbol:FBLN5
Accession:XM_011536356
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000298242 CLINVAR
  RCV000334552 CLINVAR
dbSNP (RS) rs536827304 CLINVAR
MedGen C0010495 CLINVAR
  C1837187 CLINVAR
NCBI Gene FBLN5 CLINVAR
OMIM 604580 CLINVAR
  608895 CLINVAR
SNOMED CT 58588007 CLINVAR