RGD:14696306 Rat Genome Database

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Variant: RGD:14696306 -  Homo sapiens

RGD ID: 14696306
RS ID: rs1565940841
ClinVar ID: CV622180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 114,836,377
GRCh38 12 114,398,572
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_670t1:c.510+1G>T
NC_000012.11:g.114836377C>A
NG_007373.1:g.14871G>T
NC_000012.12:g.114398572C>A
More... 		06/14/2018 splice donor variant likely pathogenic Atrio digital syndrome; Cardiac-limb syndrome; Heart-hand syndrome, type 1; HOS 1; TBX5-Related Holt-Oram Syndrome; Ventriculo-radial syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX5
Accession:NM_000192
Location:INTRON

Gene Symbol:TBX5
Accession:NM_181486
Location:INTRON

Gene Symbol:TBX5
Accession:NM_080717
Location:INTRON

Gene Symbol:TBX5
Accession:XM_017019912
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000782291 CLINVAR
dbSNP (RS) rs1565940841 CLINVAR
MedGen C0265264 CLINVAR
NCBI Gene TBX5 CLINVAR
OMIM 142900 CLINVAR
  601620 CLINVAR
SNOMED CT 19092004 CLINVAR