chr3:178916948:T>A Detail (hg19) (PIK3CA)

Information

Genome

Assembly Position
hg19 chr3:178,916,948-178,916,948
hg38 chr3:179,199,160-179,199,160 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006218.3:c.335T>A NP_006209.2:p.Ile112Asn
Ensemble ENST00000263967.4:c.335T>A ENST00000263967.4:p.Ile112Asn
ENST00000643187.1:c.335T>A ENST00000643187.1:p.Ile112Asn
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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 COSM24711 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Soft tissue sarcoma somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-10-01 no assertion criteria provided Megalencephaly-capillary malformation-polymicrogyria syndrome de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Megalencephaly cutis marmorata telangiectatica congenita NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006218.4(PIK3CA):c.335T>A (p.Ile112Asn) AND Megalencephaly-capillary malformation-polymicrogyria ... ClinVar Detail
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
rs863225460 dbSNP
Genome
hg19
Position
chr3:178,916,948-178,916,948
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser