RGD:26886371 Rat Genome Database

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Variant: RGD:26886371 -  Homo sapiens

RGD ID: 26886371
RS ID: rs1455824326
ClinVar ID: CV848657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCB1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 8,862,370
GRCh38 20 8,881,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182734.3:c.*121A>C
NC_000020.11:g.8881723A>C
NP_056007.1:p.Glu1175Asp
NM_015192.3:c.3525A>C
More... 		03/10/2020 3 prime utr variant uncertain significance Early infantile epileptic encephalopathy 12; Seizures
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Seizure  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PLCB1
Accession:NM_182734
Location:3UTRS;EXON

Gene Symbol:PLCB1
Accession:NM_015192
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 1175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDDSTIVTPIILRTDPQGFFFYWTDQNKETELLDLSLVKDARCGRHAKA
PKDPKLRELLDVGNIGRLEQRMITVVYGPDLVNISHLNLVAFQEEVAKEWTNEVFSLATNLLAQNMSRDAFLEKAYTKLK
LQVTPEGRIPLKNIYRLFSADRKRVETALEACSLPSSRNDSIPQEDFTPEVYRVFLNNLCPRPEIDNIFSEFGAKSKPYL
TVDQMMDFINLKQRDPRLNEILYPPLKQEQVQVLIEKYEPNNSLARKGQISVDGFMRYLSGEENGVVSPEKLDLNEDMSQ
PLSHYFINSSHNTYLTAGQLAGNSSVEMYRQVLLSGCRCVELDCWKGRTAEEEPVITHGFTMTTEISFKEVIEAIAECAF
KTSPFPILLSFENHVDSPKQQAKMAEYCRLIFGDALLMEPLEKYPLESGVPLPSPMDLMYKILVKNKKKSHKSSEGSGKK
KLSEQASNTYSDSSSMFEPSSPGAGEADTESDDDDDDDDCKKSSMDEGTAGSEAMATEEMSNLVNYIQPVKFESFEISKK
RNKSFEMSSFVETKGLEQLTKSPVEFVEYNKMQLSRIYPKGTRVDSSNYMPQLFWNAGCQMVALNFQTMDLAMQINMGMY
EYNGKSGYRLKPEFMRRPDKHFDPFTEGIVDGIVANTLSVKIISGQFLSDKKVGTYVEVDMFGLPVDTRRKAFKTKTSQG
NAVNPVWEEEPIVFKKVVLPTLACLRIAVYEEGGKFIGHRILPVQAIRPGYHYICLRNERNQPLTLPAVFVYIEVKDYVP
DTYADVIEALSNPIRYVNLMEQRAKQLAALTLEDEEEVKKEADPGETPSEAPSEARTTPAENGVNHTTTLTPKPPSQALH
SQPAPGSVKAPAKTEDLIQSVLTEVEAQTIEELKQQKSFVKLQKKHYKEMKDLVKRHHKKTTDLIKEHTTKYNEIQNDYL
RRRAALEKSAKKDSKKKSEPSSPDHGSSTIEQDLAALDAEMTQKLIDLKDKQQQQLLNLRQEQYYSEKYQKREHIKLLIQ
KLTDVAEECQNNQLKKLKEICEKEKKELKKKMDKKRQEKITEAKSKDKSQMEEEKTEMIRSYIQEVVQYIKRLEEAQSKR
QEKLVEKHKEIRQQILDEKPKLQVELEQEYQDKFKRLPLEILEFVQEAMKGKISDDSNHGSAPLSLSSDPGKVNHKTPSS
EELGGDIPGKEFDTPL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001066029 CLINVAR
  RCV001256140 CLINVAR
dbSNP (RS) rs1455824326 CLINVAR
MedGen C0036572 CLINVAR
  C3150988 CLINVAR
NCBI Gene PLCB1 CLINVAR
OMIM 607120 CLINVAR
  613722 CLINVAR