rs371718090 Rat Genome Database

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Variant: rs371718090 -  Homo sapiens

RGD ID: 11621550
RS ID: rs371718090
ClinVar ID: CV330289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 73,689,196
GRCh38 14 73,222,488
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_007386.2:g.91018C>T
NC_000014.9:g.73222488C>T
NC_000014.8:g.73689196C>T
NM_000021.4:c.*3199C>T
More... 		01/13/2018 3 prime utr variant uncertain significance Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV330289HumanAlzheimer's disease 3  IAGP 8554872ClinVar Annotator: match by term: Alzheimer disease and type 3ClinVar 
CV330289Humandilated cardiomyopathy 1U  IAGP 8554872ClinVar Annotator: match by term: Cardiomyopathy more ...ClinVar 
Gene Symbol:PSEN1
Accession:XM_047431601
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:NM_000021
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536972
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431600
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267866
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:NM_007318
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267864
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536974
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536973
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_047431602
Location:3UTRS;EXON

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1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000350115 CLINVAR
  RCV000398467 CLINVAR
dbSNP (RS) rs371718090 CLINVAR
MedGen C1843013 CLINVAR
  C3160720 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
  613694 CLINVAR
1 to 9 of 9 rows