RGD:28878592 Rat Genome Database

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Variant: RGD:28878592 -  Homo sapiens

RGD ID: 28878592
RS ID: rs1018085683
ClinVar ID: CV863595
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 218,519,428
GRCh38 1 218,346,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_138148.2:n.751G>A
NM_001135599.4:c.-616G>A
NM_001135599.2:c.-616G>A
NR_138149.2:n.751G>A
More... 		01/13/2018 5 prime utr variant uncertain significance 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:5UTRS;EXON

Gene Symbol:TGFB2
Accession:NM_003238
Location:5UTRS;EXON

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 RCV001095955 CLINVAR
dbSNP (RS) rs1018085683 CLINVAR
MedGen C3553762 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR