RGD:405138737 Rat Genome Database

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Variant: RGD:405138737 -  Homo sapiens

RGD ID: 405138737
ClinVar ID: CV2914718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 76,429,840
GRCh38 14 75,963,497
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.755-10C>T
NM_001329939.2:c.755-10C>T
NM_003239.5:c.755-10C>T
LRG_399:g.23253C>T
More... 		09/04/2023 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_003239
Location:INTRON

Gene Symbol:TGFB3
Accession:NM_001329939
Location:INTRON

Gene Symbol:TGFB3
Accession:NM_001329938
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003583882 CLINVAR
MedGen C3810012 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR