RGD:151766114 Rat Genome Database

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Variant: RGD:151766114 -  Homo sapiens

RGD ID: 151766114
RS ID: rs1475553309
ClinVar ID: CV1469865
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 42,427,805
GRCh38 17 44,350,437
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002087.4:c.463-5C>G
LRG_661:g.10315C>G
NG_007886.1:g.10315C>G
NC_000017.11:g.44350437C>G
More... 		09/24/2021 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:
Accession:
Location:INTRON

Gene Symbol:GRN
Accession:NM_002087
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001914518 CLINVAR
dbSNP (RS) rs1475553309 CLINVAR
MedGen C1843792 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR
  614706 CLINVAR