RGD:11050173 Rat Genome Database

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Variant: RGD:11050173 -  Homo sapiens

RGD ID: 11050173
RS ID: rs34370865
ClinVar ID: CV225702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 89,624,741
GRCh38 10 87,864,984
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.-627+436C>T
NM_001304717.5:c.599+436C>T
NG_033079.1:g.3454G>A
NC_000010.10:g.89624741C>T
More... 		12/01/2015 intron variant likely benign 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_001304718
Location:5UTRS;INTRON

Gene Symbol:PTEN
Accession:NM_001304717
Location:INTRON

Gene Symbol:PTEN
Accession:NM_000314
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000209749 CLINVAR
dbSNP (RS) rs34370865 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR