RGD:11665824 Rat Genome Database

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Variant: RGD:11665824 -  Homo sapiens

RGD ID: 11665824
RS ID: rs2277448
ClinVar ID: CV336917
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 52,585,548
GRCh38 13 52,011,412
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_028038.1:g.4026G>T
NG_008806.1:g.5083C>A
NC_000013.11:g.52011412G>T
NC_000013.10:g.52585548G>T
More... 		03/06/2019 2kb upstream variant|5 prime utr variant benign childhood 1-9 / 100 000 AllHighlyPenetrant; Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation; Hepatolenticular degeneration; Wilson's disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP7B
Accession:NM_000053
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406535
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406526
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001330578
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406532
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406545
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406519
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406547
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406534
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406539
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406514
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406515
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406525
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406524
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406528
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001243182
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001005918
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001330579
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406548
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406546
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406542
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406523
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406540
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406538
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406520
Location:5UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406518
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406537
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406511
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406513
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406531
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406543
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406521
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406516
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406512
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406541
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406527
Location:5UTRS;INTRON

Gene Symbol:ATP7B
Accession:NM_001406522
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406517
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406544
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406536
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ATP7B
Accession:NM_001406530
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000296384 CLINVAR
  RCV000384429 CLINVAR
  RCV000434045 CLINVAR
dbSNP (RS) rs2277448 CLINVAR
MedGen C0019202 CLINVAR
  C0282577 CLINVAR
  CN169374 CLINVAR
NCBI Gene ALG11 CLINVAR
  ATP7B CLINVAR
OMIM 277900 CLINVAR
  606882 CLINVAR
  613666 CLINVAR
SNOMED CT 238049009 CLINVAR
  88518009 CLINVAR