RGD:405224316 Rat Genome Database

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Variant: RGD:405224316 -  Homo sapiens

RGD ID: 405224316
ClinVar ID: CV3158506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 76,447,018
GRCh38 14 75,980,675
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.75980675G>A
NC_000014.8:g.76447018G>A
NM_003239.2:c.219C>T
LRG_399p1:p.Tyr73=
More... 		09/10/2023 synonymous variant likely benign Loeys-Dietz syndrome 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003864002 CLINVAR
MedGen C3810012 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR