RGD:28884646 Rat Genome Database

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Variant: RGD:28884646 -  Homo sapiens

RGD ID: 28884646
RS ID: rs538178628
ClinVar ID: CV872445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 73,688,014
GRCh38 14 73,221,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000021.4:c.*2017A>T
NM_007318.3:c.*2017A>T
NG_007386.2:g.89836A>T
NC_000014.9:g.73221306A>T
More...
01/13/2018 3 prime utr variant likely benign|uncertain significance Alzheimer disease early onset type 3; ALZHEIMER DISEASE, FAMILIAL, 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN1
Accession:NM_000021
Location:3UTRS;EXON

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

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

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

Gene Symbol:PSEN1
Accession:XM_011536972
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:XM_047431602
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001118802 CLINVAR
  RCV001118803 CLINVAR
dbSNP (RS) rs538178628 CLINVAR
MedGen C1843013 CLINVAR
  C3160720 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR
  607822 CLINVAR
  613694 CLINVAR