RGD:11597739 Rat Genome Database

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Variant: RGD:11597739 -  Homo sapiens

RGD ID: 11597739
RS ID: rs12408711
ClinVar ID: CV279124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  TGFB2-OT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 218,616,712
GRCh38 1 218,443,370
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.218443370G>A
NC_000001.10:g.218616712G>A
NG_027721.2:g.103037G>A
NM_001135599.2:c.*2008G>A
More... 		04/27/2017 3 prime utr variant benign ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS
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-OT1
Accession:NR_125715
Location:EXON;NON-CODING

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000397604 CLINVAR
dbSNP (RS) rs12408711 CLINVAR
MedGen C3553762 CLINVAR
NCBI Gene TGFB2 CLINVAR
  TGFB2-OT1 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR