RGD:13495263 Rat Genome Database

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Variant: RGD:13495263 -  Homo sapiens

RGD ID: 13495263
RS ID: rs1554898047
ClinVar ID: CV460273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,692,760
GRCh38 10 87,933,003
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304718.2:c.-497-10T>C
LRG_311:g.74565T>C
NG_007466.2:g.74565T>C
NC_000010.11:g.87933003T>C
More... 		05/30/2017 intron variant likely benign PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PTEN
Accession:NM_001304718
Location:5UTRS;INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:INTRON

Gene Symbol:PTEN
Accession:NM_001304717
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559494 CLINVAR
dbSNP (RS) rs1554898047 CLINVAR
MedGen C1959582 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR