RGD:21071266 Rat Genome Database

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Variant: RGD:21071266 -  Homo sapiens

RGD ID: 21071266
RS ID: rs8192676
ClinVar ID: CV790362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 178,927,353
GRCh38 3 179,209,565
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012113.2:g.66043G>A
NC_000003.12:g.179209565G>A
NC_000003.11:g.178927353G>A
NM_006218.4:c.1146-30G>A
More...
04/01/2020 intron variant benign|likely benign none provided
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 Information

Database Acc Id Source(s)
ClinVar RCV000987358 CLINVAR
  RCV001712836 CLINVAR
dbSNP (RS) rs8192676 CLINVAR
MedGen C3661900 CLINVAR
  CN072330 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 158350 CLINVAR
  171834 CLINVAR