RGD:11612785 Rat Genome Database

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Variant: RGD:11612785 -  Homo sapiens

RGD ID: 11612785
RS ID: rs1057515991
ClinVar ID: CV339559
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX22  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 79,286,667
GRCh38 X 80,031,168
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_001109878.2:c.*57A>T
NM_001109879.2:c.*57A>T
NM_001303475.1:c.*57A>T
NG_008998.1:g.21413A>T
More... 		06/14/2016 3 prime utr variant uncertain significance infancy Cleft palate X-linked
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX22
Accession:NM_001109878
Location:3UTRS;EXON

Gene Symbol:TBX22
Accession:NM_001303475
Location:3UTRS;EXON

Gene Symbol:TBX22
Accession:NM_001109879
Location:3UTRS;EXON

Gene Symbol:TBX22
Accession:NM_016954
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000262346 CLINVAR
dbSNP (RS) rs1057515991 CLINVAR
MedGen C1844830 CLINVAR
NCBI Gene TBX22 CLINVAR
OMIM 300307 CLINVAR
  303400 CLINVAR