RGD:28894642 Rat Genome Database

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Variant: RGD:28894642 -  Homo sapiens

RGD ID: 28894642
RS ID: rs63751020
ClinVar ID: CV880532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 42,422,705
GRCh38 17 44,345,337
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007886.1:g.5215A>C
NM_002087.2:c.-8+3A>C
NC_000017.11:g.44345337A>C
NC_000017.10:g.42422705A>C
More... 		04/27/2017 intron variant uncertain significance Dementia, hereditary dysphasic disinhibition; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED; Frontotemporal dementia, ubiquitin-positive; FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS; FTLD-TDP, GRN-RELATED; GRN-Related Frontotemporal Dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:GRN
Accession:NM_002087
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001122183 CLINVAR
dbSNP (RS) rs63751020 CLINVAR
MedGen C1843792 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR