RGD:8692533 Rat Genome Database

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Variant: RGD:8692533 -  Homo sapiens

RGD ID: 8692533
RS ID: rs143235344
ClinVar ID: CV142502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 40,557,089
GRCh38 1 40,091,417
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009192.1:g.11054C>G
NC_000001.11:g.40091417G>C
NC_000001.10:g.40557089G>C
LRG_690t1:c.363-18C>G
More... 		12/04/2020 intron variant benign|likely benign Adult CLN (type of CLN1); AllHighlyPenetrant; CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; Classic late infantile CLN (type of CLN1); CLN1 variable age at onset; Infantile CLN (type of CLN1); Juvenile CLN (type of CLN1); none provided; PPT1-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPT1
Accession:NM_000310
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001363695
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001142604
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127593 CLINVAR
  RCV000675773 CLINVAR
  RCV001511258 CLINVAR
dbSNP (RS) rs143235344 CLINVAR
MedGen C1850451 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR