RGD:8644717 Rat Genome Database

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Variant: RGD:8644717 -  Homo sapiens

RGD ID: 8644717
RS ID: rs63750130
ClinVar ID: CV104071
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRN  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,429,497
GRCh38 17 44,352,129
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.12007C>T
NC_000017.11:g.44352129C>T
NC_000017.10:g.42429497C>T
NP_002078.1:p.Arg432Cys
More... 		08/08/2016 missense|missense variant uncertain significance|not provided 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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGT
SSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCED
RVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIH
CCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDH
QHCCPQGYTCVAEGQCQRGSEIVAGLEKMPACRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCP
AGFRCAARGTKCLRREAPRWDAPLRDPALRQLL*

Gene Symbol:GRN
Accession:NM_002087
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTLVSWVALTAGLVAGTRCPDGQFCPVACCLDPGGASYSCCRPLLDKWPTTLSRHLGGPCQVDAHCSAGHSCIFTVSGT
SSCCPFPEAVACGDGHHCCPRGFHCSADGRSCFQRSGNNSVGAIQCPDSQFECPDFSTCCVMVDGSWGCCPMPQASCCED
RVHCCPHGAFCDLVHTRCITPTGTHPLAKKLPAQRTNRAVALSSSVMCPDARSRCPDGSTCCELPSGKYGCCPMPNATCC
SDHLHCCPQDTVCDLIQSKCLSKENATTDLLTKLPAHTVGDVKCDMEVSCPDGYTCCRLQSGAWGCCPFTQAVCCEDHIH
CCPAGFTCDTQKGTCEQGPHQVPWMEKAPAHLSLPDPQALKRDVPCDNVSSCPSSDTCCQLTSGEWGCCPIPEAVCCSDH
QHCCPQGYTCVAEGQCQRGSEIVAGLEKMPACRASLSHPRDIGCDQHTSCPVGQTCCPSLGGSWACCQLPHAVCCEDRQH
CCPAGYTCNVKARSCEKEVVSAQPATFLARSPHVGVKDVECGEGHFCHDNQTCCRDNRQGWACCPYRQGVCCADRRHCCP
AGFRCAARGTKCLRREAPRWDAPLRDPALRQLL*
Variant Samples
Additional References at PubMed
PMID:17345602   PMID:17436289   PMID:17984093   PMID:18565828   PMID:23463024   PMID:25104557   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000084482 CLINVAR
  RCV002316281 CLINVAR
  RCV002514502 CLINVAR
dbSNP (RS) rs63750130 CLINVAR
MedGen C0950123 CLINVAR
  C1843792 CLINVAR
  C3661900 CLINVAR
NCBI Gene GRN CLINVAR
OMIM 138945 CLINVAR
  607485 CLINVAR
  614706 CLINVAR