RGD:11624911 Rat Genome Database

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Variant: RGD:11624911 -  Homo sapiens

RGD ID: 11624911
RS ID: rs115599823
ClinVar ID: CV329567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX5  TBX5-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 114,846,125
GRCh38 12 114,408,320
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.-545C>T
LRG_670:g.5123C>T
NG_007373.1:g.5123C>T
NC_000012.12:g.114408320G>A
More... 		01/12/2018 5 prime utr variant benign|likely benign neonatal 1-9 / 1 000 000 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:XM_017019912
Location:INTRON

Gene Symbol:TBX5
Accession:NM_080717
Location:INTRON

Gene Symbol:TBX5
Accession:NM_181486
Location:INTRON

Gene Symbol:TBX5-AS1
Accession:NR_038440
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000392355 CLINVAR
dbSNP (RS) rs115599823 CLINVAR
MedGen C0265264 CLINVAR
NCBI Gene TBX5 CLINVAR
  TBX5-AS1 CLINVAR
OMIM 142900 CLINVAR
  601620 CLINVAR
SNOMED CT 19092004 CLINVAR