RGD:12891133 Rat Genome Database

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Variant: RGD:12891133 -  Homo sapiens

RGD ID: 12891133
RS ID: rs770497232
ClinVar ID: CV390968
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 218,607,416
GRCh38 1 218,434,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_027721.2:g.93741C>T
NC_000001.11:g.218434074C>T
NC_000001.10:g.218607416C>T
NM_003238.3:c.511-8C>T
More... 		08/14/2020 intron variant likely benign neonatal 1-9 / 1 000 000 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 RCV001824321 CLINVAR
dbSNP (RS) rs770497232 CLINVAR
MedGen C3553762 CLINVAR
NCBI Gene TGFB2 CLINVAR
OMIM 190220 CLINVAR
  614816 CLINVAR