RGD:26894255 Rat Genome Database

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Variant: RGD:26894255 -  Homo sapiens

RGD ID: 26894255
RS ID: rs1724332515
ClinVar ID: CV827717
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3CA  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 178,916,614
GRCh38 3 179,198,826
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006218.3:c.1A>G
NM_006218.4:c.1A>G
LRG_310:g.55304A>G
NC_000003.11:g.178916614A>G
More... 		01/11/2019 initiatior codon variant|initiator_codon_variant uncertain significance Cowden; Cowden disease; Cowden's disease; Cowden's syndrome; Macrocephaly cutis marmorata telangiectatica congenita; MACROCEPHALY-CAPILLARY MALFORMATION; Macrocephaly-capillary malformation syndrome (M-CM, MCAP); Megalencephaly cutis marmorata telangiectatica congenita; MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME; Megalencephaly-Capillary Malformation Syndrome (MCAP Syndrome); MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC; Megalocephaly cutis marmorata telangiectatica congenita; Multiple hamartoma syndrome; Nevus, epidermal, somatic; NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
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:XM_006713658
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*

Gene Symbol:PIK3CA
Accession:NM_006218
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
VPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIFVSVTQEAERE
EFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFRRNILNVCKEAVDLRDLNSPH
SRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLKINHDCVPEQVIAEAIRKKTRSMLLSSEQLK
LCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLGRMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNG
ETSTKSLWVINSALRIKILCATYVNVNIRDIDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAA
RLCLSICSVKGRKGAKEEHCPLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWF
SSVVKFPDMSVIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQYLIQLVQVLK
YEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLKHLNRQVEAMEKLINLTDILK
QEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECRIMSSAKRPLWLNWENPDIMSELLFQNNEII
FKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLSIGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQW
LKDKNKGEIYDAAIDLFTRSCAGYCVATFILGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDF
LIVISKGAQECTKTREFERFQEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFM
KQMNDAHHGGWTTKMDWIFHTIKQHALN*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001047554 CLINVAR
  RCV001196519 CLINVAR
  RCV001262942 CLINVAR
dbSNP (RS) rs1724332515 CLINVAR
MedGen C0018553 CLINVAR
  C0334082 CLINVAR
  C1865285 CLINVAR
NCBI Gene PIK3CA CLINVAR
OMIM 158350 CLINVAR
  162900 CLINVAR
  171834 CLINVAR
  602501 CLINVAR
SNOMED CT 25201003 CLINVAR
  58037000 CLINVAR