RGD:10397959 Rat Genome Database

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Variant: RGD:10397959 -  Homo sapiens

RGD ID: 10397959
RS ID: rs796052927
ClinVar ID: CV201123
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 40,562,909
GRCh38 1 40,097,237
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.5234T>C
NC_000001.11:g.40097237A>G
NC_000001.10:g.40562909A>G
NP_000301.1:p.Met1Thr
More... 		07/27/2019 initiatior codon variant|initiator_codon_variant|missense 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); 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:EXON

Gene Symbol:PPT1
Accession:NM_001363695
Location:EXON

Gene Symbol:PPT1
Accession:NM_001142604
Location:EXON

Variant Samples
Additional References at PubMed
PMID:9664077   PMID:11073228   PMID:11440996   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000188725 CLINVAR
  RCV000410251 CLINVAR
dbSNP (RS) rs796052927 CLINVAR
MedGen C1850451 CLINVAR
  C3661900 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR