RGD:11613976 Rat Genome Database

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Variant: RGD:11613976 -  Homo sapiens

RGD ID: 11613976
RS ID: rs574671310
ClinVar ID: CV330257
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSEN1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 73,687,412
GRCh38 14 73,220,704
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.89234C>A
NC_000014.9:g.73220704C>A
NC_000014.8:g.73687412C>A
NM_000021.4:c.*1415C>A
More... 		06/14/2016 3 prime utr variant uncertain significance Early-Onset Familial Alzheimer Disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSEN1
Accession:XM_005267864
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_011536972
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:NM_007318
Location:3UTRS;EXON

Gene Symbol:PSEN1
Accession:XM_005267866
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_011536973
Location:3UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000273094 CLINVAR
  RCV000377452 CLINVAR
dbSNP (RS) rs574671310 CLINVAR
MedGen CN043596 CLINVAR
  CN239310 CLINVAR
NCBI Gene PSEN1 CLINVAR
OMIM 104311 CLINVAR