rs1951985366 Rat Genome Database

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Variant: rs1951985366 -  Homo sapiens

RGD ID: 34890952
RS ID: rs1951985366
ClinVar ID: CV905947
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: ATP7B  
Reference Nucleotide: C
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 13 52,548,284
GRCh38 13 51,974,148
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330578.2:c.1073del
NM_001243182.2:c.803-63del
NG_008806.1:g.42348del
NC_000013.11:g.51974147del
More... 		06/01/2023 frameshift variant pathogenic Hepatolenticular degeneration; Wilson's disease
Disease Annotations     Click to see Annotation Detail View
Wilson disease  (IAGP)


Variant Details
Variant Samples
Additional References at PubMed
PMID:10441329   PMID:16283883   PMID:18373411   PMID:20465995   PMID:25741868   PMID:28492532   PMID:29649982  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001174638 CLINVAR
dbSNP (RS) rs1951985366 CLINVAR
MedGen C0019202 CLINVAR
NCBI Gene ATP7B CLINVAR
OMIM 277900 CLINVAR
  606882 CLINVAR
SNOMED CT 88518009 CLINVAR