RGD:12834373 Rat Genome Database

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Variant: RGD:12834373 -  Homo sapiens

RGD ID: 12834373
RS ID: rs121913272
ClinVar ID: CV363348
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 178,927,980
GRCh38 3 179,210,192
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_310:g.66670T>G
NG_012113.2:g.66670T>G
NC_000003.12:g.179210192T>G
NC_000003.11:g.178927980T>G
More... 		05/31/2016 missense variant likely pathogenic 20-30% her2-positive cases for metastatic carcinomas, and only 11% of the screen-detected breast carcinomas displayed her2/neu gene amplification. Adenocarcinoma of prostate; Adenocarcinoma of stomach; Adenocystic carcinoma; Breast Neoplasms; Breast tumor; Colorectal neoplasm; Colorectal Neoplasms; Lung cancer, squamous cell, somatic; Neoplasm of breast; Neoplasm of the breast; Squamous cell carcinoma of lung
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PIK3CA
Accession:NM_006218
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHGPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*

Gene Symbol:PIK3CA
Accession:XM_006713658
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 420
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHGPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*
Variant Samples
Additional References at PubMed
PMID:26619011  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000418205 CLINVAR
  RCV000418990 CLINVAR
  RCV000421875 CLINVAR
  RCV000428442 CLINVAR
  RCV000429277 CLINVAR
  RCV000434942 CLINVAR
  RCV000439523 CLINVAR
dbSNP (RS) rs121913272 CLINVAR
MedGen C0007112 CLINVAR
  C0009404 CLINVAR
  C0010606 CLINVAR
  C0149782 CLINVAR
  C0153574 CLINVAR
  C0278701 CLINVAR
  C1458155 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 171834 CLINVAR
SNOMED CT 126837005 CLINVAR
  126926005 CLINVAR