rs63750219 Rat Genome Database

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Variant: rs63750219 -  Homo sapiens

RGD ID: 8644631
RS ID: rs63750219
ClinVar ID: CV103984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 73,673,093
GRCh38 14 73,206,385
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_007386.2:g.74915G>T
NC_000014.9:g.73206385G>T
NC_000014.8:g.73673093G>T
NM_007318.3:c.857-1G>T
More... 		03/14/2000 splice acceptor variant|splice-3 pathogenic|not provided Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3; none provided
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV103984HumanAlzheimer's disease 3  IAGP 8554872ClinVar Annotator: match by term: Alzheimer disease 3ClinVarPMID:10720282 more ...
CV103984HumanAlzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques  IAGP 8554872ClinVar Annotator: match by term: Alzheimer disease more ...ClinVarPMID:10720282 more ...
Gene Symbol:PSEN1
Accession:XM_011536972
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_011536974
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_047431601
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_047431600
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_005267866
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_011536973
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_047431602
Location:INTRON

Gene Symbol:PSEN1
Accession:XM_005267864
Location:INTRON

Gene Symbol:PSEN1
Accession:NM_007318
Location:INTRON

Gene Symbol:PSEN1
Accession:NM_000021
Location:INTRON

.
PMID:8742474   PMID:8755489   PMID:9172170   PMID:9546792   PMID:10720282   PMID:11198283  



1 to 11 of 11 rows
Database
Acc Id
Source(s)
ClinVar RCV000084388 CLINVAR
  RCV002224959 CLINVAR
  RCV002224960 CLINVAR
dbSNP (RS) rs63750219 CLINVAR
MedGen C1843013 CLINVAR
  C3661900 CLINVAR
  C4015780 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
OMIM Allele 104311.0012 CLINVAR
1 to 11 of 11 rows