RGD:14691594 Rat Genome Database

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Variant: RGD:14691594 -  Homo sapiens

RGD ID: 14691594
RS ID: rs760169368
ClinVar ID: CV581893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX20  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 35,288,301
GRCh38 7 35,248,689
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166220.1:c.533C>T
NP_001159692.1:p.Pro178Leu
NM_001077653.2:c.533C>T
NC_000007.13:g.35288301G>A
More... 		08/25/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX20
Accession:NM_001077653
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPLLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGE
EDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPS
AIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV*

Gene Symbol:TBX20
Accession:NM_001166220
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPLLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIER*

Gene Symbol:TBX20
Accession:XM_017012456
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000770950 CLINVAR
  RCV002343591 CLINVAR
  RCV002477671 CLINVAR
dbSNP (RS) rs760169368 CLINVAR
MedGen C1969657 CLINVAR
  C3887892 CLINVAR
  CN230736 CLINVAR
NCBI Gene TBX20 CLINVAR
OMIM 109730 CLINVAR
  606061 CLINVAR
  611363 CLINVAR