RGD:11602463 Rat Genome Database

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Variant: RGD:11602463 -  Homo sapiens

RGD ID: 11602463
RS ID: rs28730761
ClinVar ID: CV323334
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 114,793,260
GRCh38 12 114,355,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_670t1:c.*77A>G
NM_000192.3:c.*77A>G
LRG_670:g.57988A>G
NG_007373.1:g.57988A>G
More... 		08/24/2019 3 prime utr variant benign neonatal 1-9 / 1 000 000 Atrio digital syndrome; Cardiac-limb syndrome; Heart-hand syndrome, type 1; HOS 1; none provided; 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_080717
Location:3UTRS;EXON

Gene Symbol:TBX5
Accession:NM_000192
Location:3UTRS;EXON

Gene Symbol:TBX5
Accession:NM_181486
Location:3UTRS;EXON

Gene Symbol:TBX5
Accession:XM_017019912
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000290975 CLINVAR
  RCV001597064 CLINVAR
dbSNP (RS) rs28730761 CLINVAR
MedGen C0265264 CLINVAR
  C3661900 CLINVAR
NCBI Gene TBX5 CLINVAR
OMIM 142900 CLINVAR
  601620 CLINVAR
SNOMED CT 19092004 CLINVAR