RGD:156069486 Rat Genome Database

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Variant: RGD:156069486 -  Homo sapiens

RGD ID: 156069486
ClinVar ID: CV2270986
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCG1-AS1  TOP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 39,750,678
GRCh38 20 41,122,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003286.4:c.2078G>A
NG_012262.2:g.98217G>A
NC_000020.11:g.41122038G>A
NC_000020.10:g.39750678G>A
More... 		03/31/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TOP1
Accession:NM_003286
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 693
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGDHLHNDSQIEADFRLNDSHKHKDKHKDREHRHKEHKKEKDREKSKHSNSEHKDSEKKHKEKEKTKHKDGSSEKHKDK
HKDRDKEKRKEEKVRASGDAKIKKEKENGFSSPPQIKDEPEDDGYFVPPKEDIKPLKRPRDEDDADYKPKKIKTEDTKKE
KKRKLEEEEDGKLKKPKNKDKDKKVPEPDNKKKKPKKEEEQKWKWWEEERYPEGIKWKFLEHKGPVFAPPYEPLPENVKF
YYDGKVMKLSPKAEEVATFFAKMLDHEYTTKEIFRKNFFKDWRKEMTNEEKNIITNLSKCDFTQMSQYFKAQTEARKQMS
KEEKLKIKEENEKLLKEYGFCIMDNHKERIANFKIEPPGLFRGRGNHPKMGMLKRRIMPEDIIINCSKDAKVPSPPPGHK
WKEVRHDNKVTWLVSWTENIQGSIKYIMLNPSSRIKGEKDWQKYETARRLKKCVDKIRNQYREDWKSKEMKVRQRAVALY
FIDKLALRAGNEKEEGETADTVGCCSLRVEHINLHPELDGQEYVVEFDFLGKDSIRYYNKVPVEKRVFKNLQLFMENKQP
EDDLFDRLNTGILNKHLQDLMEGLTAKVFRTYNASITLQQQLKELTAPDENIPAKILSYNRANRAVAILCNHQRAPPKTF
EKSMMNLQTKIDAKKEQLADARRDLKSAKADAKVMKDAKTKKVVESKKKAVQKLEEQLMKLEVQATDREENKQIALGTSK
LNYLDPRITVAWCKKWGVPIEKIYNKTQREKFAWAIDMADEDYEF*

Gene Symbol:PLCG1-AS1
Accession:NR_109889
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004133804 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PLCG1-AS1 CLINVAR
  TOP1 CLINVAR
OMIM 126420 CLINVAR