RGD:13789704 Rat Genome Database

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Variant: RGD:13789704 -  Homo sapiens

RGD ID: 13789704
RS ID: rs1553166337
ClinVar ID: CV541191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 40,542,512
GRCh38 1 40,076,840
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.25631T>C
NC_000001.10:g.40542512A>G
LRG_690:g.25631T>C
NC_000001.11:g.40076840A>G
More... 		10/28/2022 intron variant pathogenic|likely pathogenic 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_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:24997880   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000674642 CLINVAR
dbSNP (RS) rs1553166337 CLINVAR
MedGen C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR