RGD:329359445 Rat Genome Database

RGD ID:

329359445

ClinVar ID:

CV2446267

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	59,560,350
GRCh38	17	61,482,989

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000017.11:g.61482989C>A NC_000017.10:g.59560350C>A NM_001321120.2:c.1114C>A LRG_1206:g.31544C>A More...	03/02/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	TBX4
Accession:	NM_018488
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	371

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP LSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPTPYDQQMLSPSYCSEVTPREACMYSGSGPE IAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:	TBX4
Accession:	XM_011525490
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	435

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL KRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPTPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLS CNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERG LPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:	TBX4
Accession:	XM_011525491
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	434

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL KRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPTPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSC NMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGL PQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:	TBX4
Accession:	NM_001321120
Location:	EXON
Amino Acid Prediction:	P to T (nonsynonymous)
Amino Acid Position:	372

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP LSTFPTQRDSSLFYHCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPTPYDQQMLSPSYCSEVTPREACMYSGSGP EIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQ SQVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message