RGD:11655929 Rat Genome Database

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Variant: RGD:11655929 -  Homo sapiens

RGD ID: 11655929
RS ID: rs1057515481
ClinVar ID: CV280801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 40,538,645
GRCh38 1 40,072,973
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000310.4:c.*1088G>A
LRG_690t1:c.*1088G>A
LRG_690:g.29498G>A
NG_009192.1:g.29498G>A
More... 		01/12/2018 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:PPT1
Accession:NM_000310
Location:3UTRS;EXON

Gene Symbol:PPT1
Accession:NM_001142604
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000329319 CLINVAR
dbSNP (RS) rs1057515481 CLINVAR
MedGen C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR