RGD:405079330 Rat Genome Database

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Variant: RGD:405079330 -  Homo sapiens

RGD ID: 405079330
ClinVar ID: CV3043011
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 76,429,848
GRCh38 14 75,963,505
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329938.2:c.755-18T>C
NM_001329939.2:c.755-18T>C
NM_003239.5:c.755-18T>C
LRG_399:g.23245T>C
More... 		07/06/2023 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_001329938
Location:INTRON

Gene Symbol:TGFB3
Accession:NM_001329939
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 RCV003743394 CLINVAR
MedGen C3810012 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR