RGD:13527858 Rat Genome Database

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Variant: RGD:13527858 -  Homo sapiens

RGD ID: 13527858
RS ID: rs1554286367
ClinVar ID: CV509888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX20  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 35,271,188
GRCh38 7 35,231,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077653.2:c.818C>T
NM_001166220.1:c.818C>T
NP_001159692.1:p.Thr273Met
LRG_755p1:p.Thr273Met
More... 		08/29/2021 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX20
Accession:NM_001166220
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLIMKLKIDSNPFAKGFRDSSRLTDIER*

Gene Symbol:TBX20
Accession:NM_001077653
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFTAVTAYQNQLIMKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGE
EDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPS
AIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV*

Gene Symbol:TBX20
Accession:XM_017012456
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFTAVTAYQNQLIMKLKIDS
NPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGF
QHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHS
SAVMTPFV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000620307 CLINVAR
  RCV000764713 CLINVAR
  RCV001770548 CLINVAR
dbSNP (RS) rs1554286367 CLINVAR
MedGen C1969657 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TBX20 CLINVAR
OMIM 606061 CLINVAR
  611363 CLINVAR