RGD:28878968 Rat Genome Database

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Variant: RGD:28878968 -  Homo sapiens

RGD ID: 28878968
RS ID: rs374394434
ClinVar ID: CV865118
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 218,614,533
GRCh38 1 218,441,191
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001135599.4:c.1171-13T>G
NM_003238.6:c.1087-13T>G
NC_000001.11:g.218441191T>G
NM_001135599.2:c.1171-13T>G
More... 		01/29/2024 intron variant conflicting interpretations of pathogenicity|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_003238
Location:INTRON

Gene Symbol:TGFB2
Accession:NM_001135599
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001096071 CLINVAR
dbSNP (RS) rs374394434 CLINVAR
MedGen C3553762 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR