RGD:151664460 Rat Genome Database

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Variant: RGD:151664460 -  Homo sapiens

RGD ID: 151664460
RS ID: rs765868170
ClinVar ID: CV1332635
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 59,560,342
GRCh38 17 61,482,981
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1206:g.31536G>A
NG_008080.1:g.31536G>A
NP_060958.2:p.Arg368His
NP_001308049.1:p.Arg369His
More... 		missense variant not provided

Variant Details
Variant Transcripts
Gene Symbol:TBX4
Accession:NM_018488
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF
HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH
WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP
LSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFHSPPPYDQQMLSPSYCSEVTPREACMYSGSGPE
IAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS
QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525490
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP
GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF
PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH
LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL
KRRADGTRHLDLPCKRSYLEAPSSVGEDHYFHSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLS
CNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERG
LPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525491
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 431
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP
GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF
PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH
LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL
KRRDGTRHLDLPCKRSYLEAPSSVGEDHYFHSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSC
NMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGL
PQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:NM_001321120
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 369
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF
HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH
WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP
LSTFPTQRDSSLFYHCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFHSPPPYDQQMLSPSYCSEVTPREACMYSGSGP
EIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQ
SQVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525495
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:30578397  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001829343 CLINVAR
dbSNP (RS) rs765868170 CLINVAR
MedGen C4552070 CLINVAR
NCBI Gene TBX4 CLINVAR
OMIM 178600 CLINVAR
  601719 CLINVAR