RGD:13516295 Rat Genome Database

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Variant: RGD:13516295 -  Homo sapiens

RGD ID: 13516295
RS ID: rs2241088
ClinVar ID: CV488503
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130063979  PIK3R2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 18,272,190
GRCh38 19 18,161,380
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1392t1:c.700A>C
NM_005027.4:c.700A>C
NP_005018.2:p.Ser234Arg
LRG_1392p1:p.Ser234Arg
More... 		09/05/2021 missense variant|synonymous variant benign AllHighlyPenetrant; MEGALENCEPHALY, MEGA CORPUS CALLOSUM, AND COMPLETE LACK OF MOTOR DEVELOPMENT; MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PIK3R2
Accession:NM_005027
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 234
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGP
VALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLS
DVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVARRAPALG
PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGG
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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000595352 CLINVAR
  RCV001511467 CLINVAR
dbSNP (RS) rs2241088 CLINVAR
MedGen C4012727 CLINVAR
  CN169374 CLINVAR
NCBI Gene LOC130063979 CLINVAR
  PIK3R2 CLINVAR
OMIM 603157 CLINVAR
  603387 CLINVAR