RGD:150420297 Rat Genome Database

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Variant: RGD:150420297 -  Homo sapiens

RGD ID: 150420297
RS ID: rs897040629
ClinVar ID: CV1181723
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130063979  PIK3R2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,272,224
GRCh38 19 18,161,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1392t1:c.734C>A
NM_005027.4:c.734C>A
LRG_1392:g.13237C>A
NG_033010.2:g.13237C>A
More... 		09/23/2019 missense variant likely benign MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT; MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIK3R2
Accession:NM_005027
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGP
VALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLS
DVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
PAVRDLGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGG
SPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVD
LINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRM
NSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKR
DGTFLIRESSQRGCYACSVVVDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
PGPPPAAR*

Gene Symbol:PIK3R2
Accession:NR_073517
Location:EXON;NON-CODING

Gene Symbol:PIK3R2
Accession:NR_162071
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001551477 CLINVAR
  RCV003538806 CLINVAR
dbSNP (RS) rs897040629 CLINVAR
MedGen C3661900 CLINVAR
  C4012727 CLINVAR
NCBI Gene LOC130063979 CLINVAR
  PIK3R2 CLINVAR
OMIM 603157 CLINVAR
  603387 CLINVAR