RGD:155687632 Rat Genome Database

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Variant: RGD:155687632 -  Homo sapiens

RGD ID: 155687632
ClinVar ID: CV1803676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,725,228
GRCh38 10 87,965,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000010.11:g.87965471G>C
NC_000010.10:g.89725228G>C
NM_000314.4:c.1211G>C
LRG_311p1:p.Ter404Ser
More... 		11/09/2020 stop lost likely pathogenic 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

Gene Symbol:PTEN
Accession:NM_001304717
Location:EXON

Gene Symbol:PTEN
Accession:NM_001304718
Location:EXON

Variant Samples
Additional References at PubMed
PMID:15951562   PMID:24375884  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002355830 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR