RGD:405134708 Rat Genome Database

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Variant: RGD:405134708 -  Homo sapiens

RGD ID: 405134708
ClinVar ID: CV2888813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TGFB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 76,427,433
GRCh38 14 75,961,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001329939.2:c.927-14G>A
NM_003239.5:c.927-14G>A
LRG_399:g.25660G>A
NG_011715.1:g.25660G>A
More... 		03/27/2023 intron 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 RCV003583509 CLINVAR
MedGen C3810012 CLINVAR
NCBI Gene TGFB3 CLINVAR
OMIM 190230 CLINVAR
  615582 CLINVAR