RGD:15126496 Rat Genome Database

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Variant: RGD:15126496 -  Homo sapiens

RGD ID: 15126496
RS ID: rs942502702
ClinVar ID: CV774523
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,558,060
GRCh38 1 40,092,388
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142604.2:c.125-2876T>A
NM_000310.4:c.234+10T>A
NM_001363695.2:c.234+10T>A
NG_009192.1:g.10083T>A
More... 		07/19/2018 intron variant likely benign Adult CLN (type of CLN1); 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_001142604
Location:INTRON

Gene Symbol:PPT1
Accession:NM_000310
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001363695
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001492697 CLINVAR
dbSNP (RS) rs942502702 CLINVAR
MedGen C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR