RGD:8616912 Rat Genome Database

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Variant: RGD:8616912 -  Homo sapiens

RGD ID: 8616912
RS ID: rs386833631
ClinVar ID: CV70818
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,558,179
GRCh38 1 40,092,507
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.9964G>A
NC_000001.11:g.40092507C>T
NC_000001.10:g.40558179C>T
NP_000301.1:p.Gly42Glu
More... 		09/01/2022 intron|intron variant|missense|missense variant likely pathogenic|conflicting interpretations of pathogenicity Adult CLN (type of CLN1); CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET; Ceroid storage disease; 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_000310
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001142604
Location:INTRON

Gene Symbol:PPT1
Accession:NM_001363695
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9664077   PMID:10191107   PMID:11073228   PMID:11440996   PMID:14997939   PMID:19440452   PMID:19793631   PMID:21228398   PMID:21990111   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000049590 CLINVAR
  RCV003317067 CLINVAR
dbSNP (RS) rs386833631 CLINVAR
MedGen C0027877 CLINVAR
  C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR
SNOMED CT 42012007 CLINVAR