RGD:11629257 Rat Genome Database

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Variant: RGD:11629257 -  Homo sapiens

RGD ID: 11629257
RS ID: rs371324252
ClinVar ID: CV350529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 27,462,250
GRCh38 21 26,089,934
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000021.9:g.26089934C>T
NC_000021.8:g.27462250C>T
NM_001136131.3:c.250+9G>A
NM_001385253.1:c.355+9G>A
More... 		10/23/2022 intron variant benign|likely benign|uncertain significance AllHighlyPenetrant; Alzheimer's disease; none provided; 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_201414
Location:INTRON

Gene Symbol:APP
Accession:NM_001136016
Location:INTRON

Gene Symbol:APP
Accession:NM_001136130
Location:INTRON

Gene Symbol:APP
Accession:NM_001136129
Location:INTRON

Gene Symbol:APP
Accession:NM_001204303
Location:INTRON

Gene Symbol:APP
Accession:NM_001385253
Location:INTRON

Gene Symbol:APP
Accession:NM_001136131
Location:INTRON

Gene Symbol:APP
Accession:NM_001204301
Location:INTRON

Gene Symbol:APP
Accession:NM_001204302
Location:INTRON

Gene Symbol:APP
Accession:NM_201413
Location:INTRON

Gene Symbol:APP
Accession:NM_000484
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000319649 CLINVAR
  RCV000876441 CLINVAR
  RCV003488557 CLINVAR
dbSNP (RS) rs371324252 CLINVAR
MedGen C0002395 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene APP CLINVAR
OMIM 104760 CLINVAR
SNOMED CT 26929004 CLINVAR