RGD:11586155 Rat Genome Database

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Variant: RGD:11586155 -  Homo sapiens

RGD ID: 11586155
RS ID: rs12758915
ClinVar ID: CV280901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 227,058,344
GRCh38 1 226,870,643
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.226870643A>G
NC_000001.10:g.227058344A>G
NG_007381.2:g.5460A>G
NG_007381.1:g.5072A>G
More... 		01/12/2018 5 prime utr variant benign|likely benign Alzheimer disease familial type 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN2
Accession:XM_017001836
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425596
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:NM_012486
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:NM_000447
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_005273199
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_017001835
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425597
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XM_047425601
Location:5UTRS;EXON

Gene Symbol:PSEN2
Accession:XR_949150
Location:EXON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_007061980
Location:EXON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_007061979
Location:EXON;NON-CODING

Gene Symbol:PSEN2
Accession:XR_001737316
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000286071 CLINVAR
  RCV000343392 CLINVAR
dbSNP (RS) rs12758915 CLINVAR
MedGen C1847200 CLINVAR
  C3150958 CLINVAR
NCBI Gene LOC129932678 CLINVAR
  PSEN2 CLINVAR
OMIM 600759 CLINVAR
  606889 CLINVAR
  613697 CLINVAR