chr3:179210293:AGA> Detail (hg38) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,928,081-178,928,083 
hg38 chr3:179,210,293-179,210,295

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.1359_1361delAGA NP_006209.2:p.Glu453del
Ensemble ENST00000263967.4:c.1359_1361delAGA ENST00000263967.4:p.Glu453del
ENST00000643187.1:c.1359_1361delAGA ENST00000643187.1:p.Glu453del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 171834 OMIM
HGNC 8975 HGNC
Ensembl ENSG00000121879 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5029127 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Megalencephaly cutis marmorata telangiectatica congenita NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776933 dbSNP
Genome
hg38
Position
chr3:179,210,293-179,210,295
Variant Type
snv
Reference Allele
AGA
Alternative Allele
-
Genome browser