RGD:28871912 Rat Genome Database

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Variant: RGD:28871912 -  Homo sapiens

RGD ID: 28871912
RS ID: rs372524573
ClinVar ID: CV869341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 114,845,957
GRCh38 12 114,408,152
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007373.1:g.5291C>T
NC_000012.12:g.114408152G>A
NC_000012.11:g.114845957G>A
LRG_670:g.5291C>T
More... 		01/12/2018 5 prime utr variant benign 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:5UTRS;EXON

Gene Symbol:TBX5
Accession:NM_080717
Location:INTRON

Gene Symbol:TBX5
Accession:NM_181486
Location:INTRON

Gene Symbol:TBX5
Accession:XM_017019912
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001114298 CLINVAR
dbSNP (RS) rs372524573 CLINVAR
MedGen C0265264 CLINVAR
NCBI Gene TBX5 CLINVAR
OMIM 142900 CLINVAR
  601620 CLINVAR
SNOMED CT 19092004 CLINVAR