RGD:13809644 Rat Genome Database

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Variant: RGD:13809644 -  Homo sapiens

RGD ID: 13809644
RS ID: rs200507422
ClinVar ID: CV559383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 178,919,075
GRCh38 3 179,201,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_310:g.57765T>C
NG_012113.2:g.57765T>C
NC_000003.12:g.179201287T>C
NC_000003.11:g.178919075T>C
More... 		02/25/2018 intron variant uncertain significance Cowden; Cowden disease; Cowden's disease; Cowden's syndrome; Multiple hamartoma syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIK3CA
Accession:NM_006218
Location:INTRON

Gene Symbol:PIK3CA
Accession:XM_006713658
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000687863 CLINVAR
dbSNP (RS) rs200507422 CLINVAR
MedGen C0018553 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 158350 CLINVAR
  171834 CLINVAR
SNOMED CT 58037000 CLINVAR