RGD:11588018 Rat Genome Database

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Variant: RGD:11588018 -  Homo sapiens

RGD ID: 11588018
RS ID: rs559058511
ClinVar ID: CV280857
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 40,562,983
GRCh38 1 40,097,311
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_690t1:c.-73G>C
LRG_690:g.5160G>C
NG_009192.1:g.5160G>C
NC_000001.11:g.40097311C>G
More... 		01/13/2018 5 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 Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299416 CLINVAR
dbSNP (RS) rs559058511 CLINVAR
MedGen C1850451 CLINVAR
NCBI Gene PPT1 CLINVAR
OMIM 256730 CLINVAR
  600722 CLINVAR