RGD:152055388 Rat Genome Database

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Variant: RGD:152055388 -  Homo sapiens

RGD ID: 152055388
RS ID: rs1249275874
ClinVar ID: CV1590875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 227,069,760
GRCh38 1 226,882,059
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000447.3:c.141+11C>G
NM_012486.3:c.141+11C>G
LRG_225:g.16876C>G
NG_007381.2:g.16876C>G
More... 		08/07/2021 intron variant 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:INTRON

Gene Symbol:PSEN2
Accession:XM_005273199
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425601
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_017001835
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425596
Location:INTRON

Gene Symbol:PSEN2
Accession:NM_012486
Location:INTRON

Gene Symbol:PSEN2
Accession:NM_000447
Location:INTRON

Gene Symbol:PSEN2
Accession:XM_047425597
Location:INTRON

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

Gene Symbol:PSEN2
Accession:XR_007061979
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 References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002109473 CLINVAR
dbSNP (RS) rs1249275874 CLINVAR
MedGen C1847200 CLINVAR
NCBI Gene PSEN2 CLINVAR
OMIM 600759 CLINVAR
  606889 CLINVAR