RGD:11619995 Rat Genome Database

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Variant: RGD:11619995 -  Homo sapiens

RGD ID: 11619995
RS ID: rs736479
ClinVar ID: CV336528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 27,253,067
GRCh38 21 25,880,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000484.4:c.*914G>A
NC_000021.9:g.25880756C>T
NC_000021.8:g.27253067C>T
NM_001136016.3:c.*914G>A
More... 		01/12/2018 3 prime utr variant benign|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_201414
Location:3UTRS;EXON

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000331545 CLINVAR
dbSNP (RS) rs736479 CLINVAR
MedGen C0002395 CLINVAR
NCBI Gene APP CLINVAR
OMIM 104760 CLINVAR
SNOMED CT 26929004 CLINVAR