RGD:8692530 Rat Genome Database

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Variant: RGD:8692530 -  Homo sapiens

RGD ID: 8692530
RS ID: rs587781122
ClinVar ID: CV142499
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,558,064
GRCh38 1 40,092,392
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.10079G>A
NC_000001.11:g.40092392C>T
NC_000001.10:g.40558064C>T
LRG_690t1:c.234+6G>A
More... 		10/29/2019 intron variant benign|uncertain significance 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); PPT1-Related Neuronal Ceroid-Lipofuscinosis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPT1
Accession:NM_001363695
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001142604
Location:INTRON

Gene Symbol:PPT1
Accession:NM_000310
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000127590 CLINVAR
  RCV001242283 CLINVAR
dbSNP (RS) rs587781122 CLINVAR
MedGen C1850451 CLINVAR
  CN169374 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR