RGD:152047736 Rat Genome Database

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Variant: RGD:152047736 -  Homo sapiens

RGD ID: 152047736
RS ID: rs901525268
ClinVar ID: CV1619954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 42,427,135
GRCh38 17 44,349,767
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.9645G>C
NC_000017.11:g.44349767G>C
NC_000017.10:g.42427135G>C
NM_002087.4:c.349+16G>C
More... 		11/23/2021 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002207122 CLINVAR
dbSNP (RS) rs901525268 CLINVAR
MedGen C1843792 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR
  614706 CLINVAR