RGD:12834514 Rat Genome Database

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Variant: RGD:12834514 -  Homo sapiens

RGD ID: 12834514
RS ID: rs587780070
ClinVar ID: CV363489
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TP53  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 7,578,395
GRCh38 17 7,675,077
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
LRG_321:g.17474C>G
NG_017013.2:g.17474C>G
NC_000017.11:g.7675077G>C
NC_000017.10:g.7578395G>C
More... 		10/07/2022 missense variant pathogenic|likely pathogenic|uncertain significance adult|all ages 1-5 / 10 000|1-9 / 100 000|20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; Adenocarcinoma of lung; Adenocarcinoma of lung, somatic; Adenocarcinoma of stomach; AllHighlyPenetrant; AML adult; Brain neoplasm; Brain Neoplasms; Brain tumour; Breast Neoplasms; Breast tumor; Cancer predisposition; Carcinoma of gallbladder; Carcinoma, squamous cell of head and neck; Colorectal neoplasm; Colorectal Neoplasms; Cutaneous melanoma; Esophageal carcinoma; Giant cell glioblastoma (histologic variant); Gliosarcoma (histologic variant); Head and neck squamous cell carcinoma; Hepatocellular cancer; Hepatoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; LIVER CELL CARCINOMA; Lung cancer, squamous cell, somatic; Lung oat cell carcinoma; Malignant melanoma, somatic; Neoplasm of breast; Neoplasm of the breast; Neoplastic Syndromes, Hereditary; Oesophageal carcinoma; Primary carcinoma of liver; Sarcoma family syndrome of Li and Fraumeni; SMALL CELL CANCER OF THE LUNG, SOMATIC; Small cell lung cancer; Squamous cell carcinoma of lung; Squamous cell carcinoma, head and neck, somatic; Tumor predisposition

Variant Details
Variant Transcripts
Gene Symbol:TP53
Accession:NM_001126118
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407271
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276695
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001276697
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126114
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126116
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_000546
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126112
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276698
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407264
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407270
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276761
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407268
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001126113
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407262
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126115
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSK
KGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001126117
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF
RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKK
GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407266
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP
TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM
AIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS
SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK
KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407265
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276696
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001407269
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:TP53
Accession:NM_001276760
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001276699
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN
SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK
KKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:TP53
Accession:NM_001407263
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NM_001407267
Location:EXON
Amino Acid Prediction: H to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA
KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHDERCSDSDGLAPPQHLIRVEG
NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG
RDRRTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP
GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:TP53
Accession:NR_176326
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11896595   PMID:12509279   PMID:12726864   PMID:12826609   PMID:16633321   PMID:17530187   PMID:18511570   PMID:21590121   PMID:25433984   PMID:25741868   PMID:26497680   PMID:26619011  
PMID:28492532   PMID:29070607   PMID:29979965   PMID:30224644   PMID:32658383  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000419821 CLINVAR
  RCV000420116 CLINVAR
  RCV000421694 CLINVAR
  RCV000423899 CLINVAR
  RCV000424030 CLINVAR
  RCV000425288 CLINVAR
  RCV000426383 CLINVAR
  RCV000430072 CLINVAR
  RCV000430612 CLINVAR
  RCV000431709 CLINVAR
  RCV000431956 CLINVAR
  RCV000436443 CLINVAR
  RCV000436622 CLINVAR
  RCV000437679 CLINVAR
  RCV000440707 CLINVAR
  RCV000441771 CLINVAR
  RCV000443866 CLINVAR
  RCV000444860 CLINVAR
  RCV000444992 CLINVAR
  RCV001851020 CLINVAR
  RCV002348144 CLINVAR
  RCV002465649 CLINVAR
  RCV003335320 CLINVAR
  RCV003470376 CLINVAR
dbSNP (RS) rs587780070 CLINVAR
MedGen C0006118 CLINVAR
  C0009404 CLINVAR
  C0017636 CLINVAR
  C0023467 CLINVAR
  C0027672 CLINVAR
  C0085390 CLINVAR
  C0149782 CLINVAR
  C0149925 CLINVAR
  C0151779 CLINVAR
  C0152013 CLINVAR
  C0152018 CLINVAR
  C0153574 CLINVAR
  C0235782 CLINVAR
  C0278701 CLINVAR
  C0279663 CLINVAR
  C0280630 CLINVAR
  C0281361 CLINVAR
  C0553723 CLINVAR
  C1168401 CLINVAR
  C1458155 CLINVAR
  C1835398 CLINVAR
  C1859972 CLINVAR
  C2239176 CLINVAR
  CN169374 CLINVAR
NCBI Gene TP53 CLINVAR
OMIM 114550 CLINVAR
  151623 CLINVAR
  182280 CLINVAR
  191170 CLINVAR
  202300 CLINVAR
  275355 CLINVAR
  601626 CLINVAR
SNOMED CT 126837005 CLINVAR
  126926005 CLINVAR
  126952004 CLINVAR
  17788007 CLINVAR
  25370001 CLINVAR
  428850001 CLINVAR
  63634009 CLINVAR
  699346009 CLINVAR
  716659002 CLINVAR
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