RGD:28889943 Rat Genome Database

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Variant: RGD:28889943 -  Homo sapiens

RGD ID: 28889943
RS ID: rs572356515
ClinVar ID: CV886642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 27,253,318
GRCh38 21 25,881,007
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204303.2:c.*663C>T
NM_001136130.3:c.*663C>T
NM_000484.3:c.*663C>T
NG_007376.2:g.295122C>T
More... 		01/13/2018 3 prime utr variant likely benign Alzheimer's disease; Presenile and senile dementia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:APP
Accession:NM_001204303
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_000484
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001385253
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001136129
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001136016
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_201414
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001136130
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001204302
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001136131
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_001204301
Location:3UTRS;EXON

Gene Symbol:APP
Accession:NM_201413
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001138876 CLINVAR
dbSNP (RS) rs572356515 CLINVAR
MedGen C0002395 CLINVAR
NCBI Gene APP CLINVAR
OMIM 104760 CLINVAR
SNOMED CT 26929004 CLINVAR