RGD:11601680 Rat Genome Database

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Variant: RGD:11601680 -  Homo sapiens

RGD ID: 11601680
RS ID: rs192897390
ClinVar ID: CV321094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 73,686,669
GRCh38 14 73,219,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007386.2:g.88491G>A
NC_000014.9:g.73219961G>A
NC_000014.8:g.73686669G>A
NM_000021.4:c.*672G>A
More... 		05/01/2022 3 prime utr variant benign|likely benign|uncertain significance Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN1
Accession:XM_047431602
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536972
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_011536973
Location:3UTRS;EXON

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

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

Gene Symbol:PSEN1
Accession:XM_047431601
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000284552 CLINVAR
  RCV000339467 CLINVAR
  RCV003401319 CLINVAR
dbSNP (RS) rs192897390 CLINVAR
MedGen C1843013 CLINVAR
  C3160720 CLINVAR
  C3661900 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
  613694 CLINVAR