RGD:150484485 Rat Genome Database

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Variant: RGD:150484485 -  Homo sapiens

RGD ID: 150484485
RS ID: rs12123818
ClinVar ID: CV1263190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 227,079,821
GRCh38 1 226,892,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_225t1:c.1072+276G>A
NM_012486.3:c.1069+276G>A
NM_000447.3:c.1072+276G>A
LRG_225:g.26937G>A
More... 		09/17/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PSEN2
Accession:NM_000447
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_017001835
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425601
Location:INTRON

Gene Symbol:PSEN2
Accession:NM_012486
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_005273199
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_017001836
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425596
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425597
Location:INTRON

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001686590 CLINVAR
dbSNP (RS) rs12123818 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PSEN2 CLINVAR
OMIM 600759 CLINVAR