RGD:13829871 Rat Genome Database

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Variant: RGD:13829871 -  Homo sapiens

RGD ID: 13829871
RS ID: rs368307425
ClinVar ID: CV580243
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,429,380
GRCh38 17 44,352,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_661:g.11890C>T
NG_007886.1:g.11890C>T
NM_002087.2:c.1180-3C>T
NC_000017.11:g.44352012C>T
More... 		12/02/2016 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; GRN-Related Neuronal Ceroid-Lipofuscinosis; Neuronal ceroid lipofuscinosis 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRN
Accession:NM_002087
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001868358 CLINVAR
  RCV002318665 CLINVAR
dbSNP (RS) rs368307425 CLINVAR
MedGen C0950123 CLINVAR
  C1843792 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR
  614706 CLINVAR