RGD:11588297 Rat Genome Database

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Variant: RGD:11588297 -  Homo sapiens

RGD ID: 11588297
RS ID: rs900
ClinVar ID: CV280581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 218,614,905
GRCh38 1 218,441,563
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.218441563A>T
NC_000001.10:g.218614905A>T
NG_027721.2:g.101230A>T
NM_001135599.2:c.*201A>T
More... 		06/26/2018 3 prime utr variant benign ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFB2
Accession:NM_001135599
Location:3UTRS;EXON

Gene Symbol:TGFB2
Accession:NM_003238
Location:3UTRS;EXON

Gene Symbol:TGFB2
Accession:NR_138148
Location:EXON;NON-CODING

Gene Symbol:TGFB2
Accession:NR_138149
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000301723 CLINVAR
  RCV001683182 CLINVAR
dbSNP (RS) rs900 CLINVAR
MedGen C3553762 CLINVAR
  C3661900 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR