RGD:152049883 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:152049883 -  Homo sapiens

RGD ID: 152049883
RS ID: rs373210564
ClinVar ID: CV1657105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  LOC125177489  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,428,397
GRCh38 17 44,351,029
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.709-8C>T
LRG_661:g.10907C>T
NG_007886.1:g.10907C>T
NC_000017.11:g.44351029C>T
More...
04/25/2022 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002189276 CLINVAR
dbSNP (RS) rs373210564 CLINVAR
MedGen C1843792 CLINVAR
NCBI Gene GRN CLINVAR
  LOC125177489 CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR
  614706 CLINVAR