RGD:11050204 Rat Genome Database

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Variant: RGD:11050204 -  Homo sapiens

RGD ID: 11050204
RS ID: rs114277912
ClinVar ID: CV225686
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PTEN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 89,642,368
GRCh38 10 87,882,611
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.-626-11414T>C
NM_001304717.5:c.600-11414T>C
LRG_311:g.24173T>C
NG_007466.2:g.24173T>C
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_000314
Location:INTRON

Gene Symbol:PTEN
Accession:NM_001304717
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000209807 CLINVAR
dbSNP (RS) rs114277912 CLINVAR
MedGen C0027672 CLINVAR
NCBI Gene PTEN CLINVAR
OMIM 601728 CLINVAR
SNOMED CT 699346009 CLINVAR