RGD:11550965 Rat Genome Database

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Variant: RGD:11550965 -  Homo sapiens

RGD ID: 11550965
RS ID: rs2270150
ClinVar ID: CV256298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBX4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 59,560,685
GRCh38 17 61,483,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_018488.3:c.1446C>T
NG_008080.1:g.31879C>T
NC_000017.11:g.61483324C>T
NC_000017.10:g.59560685C>T
More... 		10/04/2018 synonymous variant benign infancy <1 / 1 000 000 AllHighlyPenetrant; Congenital coxa vara, patella aplasia and tarsal synostosis; ISCHIOCOXOPODOPATELLAR SYNDROME; ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION; Ischiopatellar dysplasia; none provided; PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS; Patella aplasia, coxa vara, tarsal synostosis; Scott-Taor syndrome; Small patella syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TBX4
Accession:NM_018488
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 482
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF
HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH
WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP
LSTFPTQRDSSLFYHCLKRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPE
IAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQS
QVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525490
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP
GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF
PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH
LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL
KRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLS
CNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERG
LPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525491
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 545
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFSQPRLAPAPFYLLGCTWLVYFARSWESKSKPGMRRPLNKMGERPEPGDAPGGPGESGKKEMLQDKGLSESEEAFRAP
GPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKFHEAGTEMIITKAGRRMF
PSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNH
LDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKIENNPFAKGFRGSDDSDL
RVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLPLSTFPTQRDSSLFYHCL
KRRDGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGPEIAGVSGVDDLPPPPLSC
NMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQSQVRERGPSASFPRERGL
PQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:NM_001321120
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 483
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQDKGLSESEEAFRAPGPALGEASAANAPEPALAAPGLSGAALGSPPGPGADVVAAAAAEQTIENIKVGLHEKELWKKF
HEAGTEMIITKAGRRMFPSYKVKVTGMNPKTKYILLIDIVPADDHRYKFCDNKWMVAGKAEPAMPGRLYVHPDSPATGAH
WMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQPRLHIVKADENNAFGSKNTAFCTHVFPETSFISVTSYQNHKITQLKI
ENNPFAKGFRGSDDSDLRVARLQSKEYPVISKSIMRQRLISPQLSATPDVGPLLGTHQALQHYQHENGAHSQLAEPQDLP
LSTFPTQRDSSLFYHCLKRRADGTRHLDLPCKRSYLEAPSSVGEDHYFRSPPPYDQQMLSPSYCSEVTPREACMYSGSGP
EIAGVSGVDDLPPPPLSCNMWTSVSPYTSYSVQTMETVPYQPFPTHFTATTMMPRLPTLSAQSSQPPGNAHFSVYNQLSQ
SQVRERGPSASFPRERGLPQGCERKPPSPHLNAANEFLYSQTFSLSRESSLQYHSGMGTVENWTDG*

Gene Symbol:TBX4
Accession:XM_011525495
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252435 CLINVAR
  RCV000396021 CLINVAR
  RCV001723853 CLINVAR
dbSNP (RS) rs2270150 CLINVAR
MedGen C1840061 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TBX4 CLINVAR
OMIM 147891 CLINVAR
  168850 CLINVAR
  601719 CLINVAR