RGD:28885730 Rat Genome Database

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Variant: RGD:28885730 -  Homo sapiens

RGD ID: 28885730
RS ID: rs1487186623
ClinVar ID: CV888506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP63  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 189,607,144
GRCh38 3 189,889,355
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001114980.2:c.1241C>T
NM_001114981.2:c.1241C>T
NM_001329144.2:c.1507+2804C>T
NM_001329148.2:c.1511C>T
More...
01/13/2018 intron variant uncertain significance Cleft lip with or without cleft palate, nonsyndromic, 8; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome; Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3); EEC SYNDROME 3

Variant Details
Variant Transcripts
Gene Symbol:TP63
Accession:NM_003722
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 508
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDEL
LYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQ
LINPQQRNALTPTTIPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSS
CLDYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVID
AVRFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001114978
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 508
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDEL
LYLPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQ
LINPQQRNALTPTTIPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVRIWQV*

Gene Symbol:TP63
Accession:NM_001114980
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGP
HSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFN
EGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQV
LGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEML
LKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTT
IPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIY
QIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPP
RDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001114981
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGP
HSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFN
EGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQV
LGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEML
LKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTT
IPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVRIWQV*

Gene Symbol:TP63
Accession:NM_001329964
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 506
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKCWEQRDWTAFTKVGKPCFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEPSE
DGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPS
PAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVK
RCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPIL
IIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLY
LPVRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLI
NPQQRNALTPTTIPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCL
DYFTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAV
RFTLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001329148
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 504
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEP
SEDGATNKIEISMDCIRMQDSDLSDPMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALS
PSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEV
VKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRP
ILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDAFRQNTHGIQMTSIKKRRSPDDELLYLP
VRGRETYEMLLKIKESLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINP
QQRNALTPTTIPDGMGANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDY
FTTQGLTTIYQIEHYSMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRF
TLRQTISFPPRDEWNDFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001329146
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYLENNAQTQFSEYSTELKKLYCQIAKTCPIQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIA
PPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGGMNRRPILIIVTLETRDGQVLGRRC
FEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKE
SLELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGM
GANIPMMGIHMPMAGDMNGLSPTQALPPPLSMPSTSHCTPPPPYPTDCSIVSFLARLGCSSCLDYFTTQGLTTIYQIEHY
SMDDLASLKIPEQFRHAIWKGILDHRQLHEFSSPSHLLRTPSSASTVSVGSSETRGERVIDAVRFTLRQTISFPPRDEWN
DFNFDMDARRNKQQRIKEEGE*

Gene Symbol:TP63
Accession:NM_001114979
Location:INTRON

Gene Symbol:TP63
Accession:NM_001114982
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329144
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329145
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329149
Location:INTRON

Gene Symbol:TP63
Accession:NM_001329150
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001150951 CLINVAR
  RCV001150952 CLINVAR
  RCV001150953 CLINVAR
dbSNP (RS) rs1487186623 CLINVAR
MedGen C1851878 CLINVAR
  C1858562 CLINVAR
  CN239305 CLINVAR
NCBI Gene TP63 CLINVAR
OMIM 603273 CLINVAR
  604292 CLINVAR
  618149 CLINVAR