RGD:12739271 Rat Genome Database

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Variant: RGD:12739271 -  Homo sapiens

RGD ID: 12739271
RS ID: rs1057517024
ClinVar ID: CV358233
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 52,539,171
GRCh38 13 51,965,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008806.1:g.51460A>G
NC_000013.11:g.51965035T>C
NC_000013.10:g.52539171T>C
NM_000053.3:c.1708-2A>G
More... 		04/29/2023 intron variant|splice acceptor variant likely pathogenic childhood 1-9 / 100 000 Hepatolenticular degeneration; Wilson's disease
Disease Annotations     Click to see Annotation Detail View
Wilson disease  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406522
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406516
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406532
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406540
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406536
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406530
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001330579
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406521
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406547
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001330578
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406528
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406512
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406523
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406537
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406525
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406539
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406526
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406513
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406515
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406518
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406546
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406542
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406544
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406543
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406534
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_000053
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406545
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001005918
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406541
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406548
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406524
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406519
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406531
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406527
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406511
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406514
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406538
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001243182
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406520
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406535
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406517
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10441329   PMID:16199547   PMID:16283883   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409239 CLINVAR
dbSNP (RS) rs1057517024 CLINVAR
MedGen C0019202 CLINVAR
NCBI Gene ATP7B CLINVAR
OMIM 277900 CLINVAR
  606882 CLINVAR
SNOMED CT 88518009 CLINVAR