RGD:126915737 Rat Genome Database

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Variant: RGD:126915737 -  Homo sapiens

RGD ID: 126915737
RS ID: rs768644203
ClinVar ID: CV1047678
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 114,793,443
GRCh38 12 114,355,638
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_670t1:c.1451C>A
NM_080717.4:c.1301C>A
NM_000192.3:c.1451C>A
NM_181486.4:c.1451C>A
More... 		07/13/2021 missense variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX5
Accession:NM_000192
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAG
RRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKL
TNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQI
YHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNT
WPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
TLQHPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS*

Gene Symbol:TBX5
Accession:NM_080717
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGIKVFLHERELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPA
MPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETA
FIAVTSYQNHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQ
YQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRT
ESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQL
GEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQHPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS*

Gene Symbol:TBX5
Accession:NM_181486
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 484
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAG
RRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKL
TNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQI
YHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNT
WPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG
TLQHPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS*

Gene Symbol:TBX5
Accession:XM_017019912
Location:EXON
Amino Acid Prediction: P to H (nonsynonymous)
Amino Acid Position: 500
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDGEQNLARAQGPGRTMADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHERELW
LKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPAT
GAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQ
LKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGPSQDL
LPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSA
PPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQ
PVVRQCGPQTGLQSPGTLQHPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001360162 CLINVAR
dbSNP (RS) rs768644203 CLINVAR
MedGen C3542024 CLINVAR
NCBI Gene TBX5 CLINVAR
OMIM 601620 CLINVAR
  614823 CLINVAR