RGD:152025952 Rat Genome Database

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Variant: RGD:152025952 -  Homo sapiens

RGD ID: 152025952
RS ID: rs199930875
ClinVar ID: CV1627739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 76,437,883
GRCh38 14 75,971,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011715.1:g.15210A>G
NM_001329938.2:c.516+15A>G
NM_001329939.2:c.516+15A>G
NC_000014.8:g.76437883T>C
More... 		06/05/2021 intron variant likely benign Loeys-Dietz syndrome 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TGFB3
Accession:NM_001329939
Location:INTRON

Gene Symbol:TGFB3
Accession:NM_001329938
Location:INTRON

Gene Symbol:TGFB3
Accession:NM_003239
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003053423 CLINVAR
dbSNP (RS) rs199930875 CLINVAR
MedGen C3810012 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR