RGD:8697934 Rat Genome Database

Variant: RGD:8697934 - Homo sapiens

RGD ID:

8697934

RS ID:

rs371409680

ClinVar ID:

CV152038

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TP53

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	7,577,090
GRCh38	17	7,673,772

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_321t5:c.452G>A LRG_321:g.18779G>A NG_017013.2:g.18779G>A NC_000017.11:g.7673772C>T More...	06/15/2020	missense variant	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	AllHighlyPenetrant; Astrocytoma (excluding glioblastoma); Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; none provided; Sarcoma family syndrome of Li and Fraumeni; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Hereditary Adrenocortical Carcinoma (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

high grade glioma (IAGP)

Li-Fraumeni syndrome (IAGP)

Li-Fraumeni syndrome 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Astrocytoma (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TP53
Accession:	NM_001276695
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407262
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407269
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276696
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407266
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001276761
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407268
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001126117
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001276699
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001407263
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126118
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407267
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407271
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407265
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001407264
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126112
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126113
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQMLLDLRWCYFLINSS*

Gene Symbol:	TP53
Accession:	NM_001276760
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	244

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAPTPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTA KSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEG NLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPG RDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEP GGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_000546
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126114
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001126115
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSK KGQSTSRHKKLMFKTEGPDSD*

Gene Symbol:	TP53
Accession:	NM_001126116
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFCQLAKTCPVQLWVDSTPPPGTRVRAMAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTF RHSVVVPYEPPEVGSDCTTIHYNYMCNSSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKK GEPHHELPPGSTKRALPNNTSSSPQPKKKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276698
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001407270
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEEPQSDPSVEPPLSQETFSDLWKLLPENNVLSPLPSQAMDDLMLSPDDIEQWFTEDPGPDEAPRMPEAAPPVAPAPAAP TPAAPAPAPSWPLSSSVPSQKTYQGSYGFRLGFLHSGTAKSVTCTYSPALNKMFCQLAKTCPVQLWVDSTPPPGTRVRAM AIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCNS SCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPKK KPLDGEYFTLQDQTSFQKENC*

Gene Symbol:	TP53
Accession:	NM_001276697
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAIYKQSQHMTEVVRRCPHHERCSDSDGLAPPQHLIRVEGNLRVEYLDDRNTFRHSVVVPYEPPEVGSDCTTIHYNYMCN SSCMGGMNRRPILTIITLEDSSGNLLGRNSFEVRVCACPGRDRHTEEENLRKKGEPHHELPPGSTKRALPNNTSSSPQPK KKPLDGEYFTLQIRGRERFEMFRELNEALELKDAQAGKEPGGSRAHSSHLKSKKGQSTSRHKKLMFKTEGPDSD*

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:1200021	PMID:9525742	PMID:9546439	PMID:9627118	PMID:10557074	PMID:11429700	PMID:11429705	PMID:11896595	PMID:12019170	PMID:12826609	PMID:15580553	PMID:16861262
PMID:17311302	PMID:17606709	PMID:21343334	PMID:25637381	PMID:25741868	PMID:26467025	PMID:26681312	PMID:28492532	PMID:29979965	PMID:30224644

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000131388	CLINVAR
	RCV000148904	CLINVAR
	RCV000213060	CLINVAR
	RCV000457935	CLINVAR
	RCV000507738	CLINVAR
	RCV001815237	CLINVAR
	RCV003415959	CLINVAR
	RCV003467172	CLINVAR
dbSNP (RS)	rs371409680	CLINVAR
MedGen	C0004114	CLINVAR
	C0027672	CLINVAR
	C0085390	CLINVAR
	C1835398	CLINVAR
	C1859972	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	TP53	CLINVAR
OMIM	151623	CLINVAR
	191170	CLINVAR
	202300	CLINVAR
SNOMED CT	38713004	CLINVAR
	428850001	CLINVAR
	699346009	CLINVAR

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)

Variant: RGD:8697934 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: RGD:8697934 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar