RGD:25324645 Rat Genome Database

RGD ID:

25324645

RS ID:

rs1589659733

ClinVar ID:

CV810108

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	89,712,001
GRCh38	10	87,952,244

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_311t1:c.619A>T NM_001304717.5:c.1138A>T NM_001304718.2:c.28A>T NM_000314.8:c.619A>T More...	10/17/2019	missense variant	uncertain significance	Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	PTEN
Accession:	NM_000314
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTAIIKEIVSRNKRRYQEDGFDLDLTYIYPNIIAMGFPAERLEGVYRNNIDDVVRFLDSKHKNHYKIYNLCAERHYDTAK FNCRVAQYPFEDHNPPQLELIKPFCEDLDQWLSEDDNHVAAIHCKAGKGRTGVMICAYLLHRGKFLKAQEALDFYGEVRT RDKKGVTIPSQRRYVYYYSYLLKNHLDYRPVALLFHKMMFETIPMFCGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMY FEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNTFFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTL TKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNPEASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQI TKV*

Gene Symbol:	PTEN
Accession:	NM_001304717
Location:	EXON
Amino Acid Prediction:	Q to L (nonsynonymous)
Amino Acid Position:	380
TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS

Amino Acid Sequence (Calculated using NCBI transcript definition)
LERGGEAAAAAAAAAAAPGRGSESPVTISRAGNAGELVSPLLLPPTRRRRRLAHPGTRAGFKPPVRRRRTPRGPGSGGRR RRQPFGGLFVFSPFRCRRCQASGCGEAGPVAATIQQPPQQPLPGCGPEPSGGRARGISYRQVQSHFHPAEEAPPPAASA ISLLLFLQPQAPRHDSHHQRDRQKQKEISRGWIRLRLDLYLSKHYCYGISCRKTRRIQEQYCSKVFGFKAKPLQD IQSLCKTLHRQILQSCTISFRPPTTARTYQTLLRSPMAKRQSCCSNSLSWKGTNWCNDMCIFITSGQIFK GTRGPRFLWGSKDQRQKGSNYSQSEALCVLLLPVKESSGLTSGTVVSQDDVNYSNVLWRNLQSSVCGLPAKGEDIFL QFRTHTTGRQVHVLVPSAVTCVWYQSRVLPQTEQDAKKGQNVSLLGKYILHTRTRGNLRKSRKWKSMSRNRHLQYR ACRQGISSTYFNKKSQSKRQSQPILFSKFGEAVLHKNSRGAVKSRGQFNFCNTRC*QTSLIFHHLS RETF**RSAYTNYKSL

Gene Symbol:	PTEN
Accession:	NM_001304718
Location:	EXON
Amino Acid Prediction:	S to C (nonsynonymous)
Amino Acid Position:	10

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMFETIPMFCGGTCNPQFVVCQLKVKIYSSNSGPTRREDKFMYFEFPQPLPVCGDIKVEFFHKQNKMLKKDKMFHFWVNT FFIPGPEETSEKVENGSLCDQEIDSICSIERADNDKEYLVLTLTKNDLDKANKDKANRYFSPNFKVKLYFTKTVEEPSNP EASSSTSVTPDVSDNEPDHYRYSDTTDSDPENEPFDEDQHTQITKV*

Variant Samples

Additional Information

External Database Links

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)

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