RGD:13462498 Rat Genome Database

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Variant: RGD:13462498 -  Homo sapiens

RGD ID: 13462498
RS ID: rs747369702
ClinVar ID: CV438833
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX20  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 35,280,519
GRCh38 7 35,240,907
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.785C>G
NP_001071121.1:p.Thr262Arg
LRG_755:g.18193C>G
NG_015805.1:g.18193C>G
More... 		09/19/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TBX20
Accession:XM_017012456
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHTASLLNLKSEEFRTFIFPETVFRAVTAYQNQLITKLKIDS
NPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGEEDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGF
QHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPSAIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHS
SAVMTPFV*

Gene Symbol:TBX20
Accession:NM_001166220
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFRAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIER*

Gene Symbol:TBX20
Accession:NM_001077653
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFTASPKPQLSSRANAFSIAALMSSGGSKEKEATENTIKPLEQFVEKSSCAQPLGELTSLDAHGEFGGGSGSSPSSSSL
CTEPLIPTTPIIPSEEMAKIACSLETKELWDKFHELGTEMIITKSGRRMFPTIRVSFSGVDPEAKYIVLMDIVPVDNKRY
RYAYHRSSWLVAGKADPPLPARLYVHPDSPFTGEQLLKQMVSFEKVKLTNNELDQHGHIILNSMHKYQPRVHIIKKKDHT
ASLLNLKSEEFRTFIFPETVFRAVTAYQNQLITKLKIDSNPFAKGFRDSSRLTDIERESVESLIQKHSYARSPIRTYGGE
EDVLGDESQTTPNRGSAFTTSDNLSLSSWVSSSSSFPGFQHPQSLTALGTSTASIATPIPHPIQGSLPPYSRLGMPLTPS
AIASSMQGSGPTFPSFHMPRYHHYFQQGPYAAIQGLRHSSAVMTPFV*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000514251 CLINVAR
dbSNP (RS) rs747369702 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TBX20 CLINVAR
OMIM 606061 CLINVAR