RGD:11602067 Rat Genome Database

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Variant: RGD:11602067 -  Homo sapiens

RGD ID: 11602067
RS ID: rs371788814
ClinVar ID: CV319971
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP7B  TMEM272  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 52,507,929
GRCh38 13 51,933,793
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
NM_001330579.2:c.*963C>T
NM_000053.3:c.*963C>T
NG_008806.1:g.82702C>T
NC_000013.11:g.51933793G>A
More... 		06/14/2016 3 prime utr variant uncertain significance 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:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406531
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406511
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406515
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001243182
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406541
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406513
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406535
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406526
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406537
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406543
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406522
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406539
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406516
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406547
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406536
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406527
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406546
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406534
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406523
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406548
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001005918
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406540
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406525
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001330578
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406518
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406530
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_000053
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001330579
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406521
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406528
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406514
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406520
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406512
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406524
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406545
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406542
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406517
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406519
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406532
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406538
Location:3UTRS;EXON

Gene Symbol:ATP7B
Accession:NM_001406544
Location:3UTRS;EXON

Gene Symbol:TMEM272
Accession:NM_001351003
Location:INTRON

Gene Symbol:TMEM272
Accession:XM_047430279
Location:INTRON

Gene Symbol:TMEM272
Accession:NM_001351006
Location:INTRON

Gene Symbol:TMEM272
Accession:XM_047430278
Location:INTRON

Gene Symbol:TMEM272
Accession:XM_047430281
Location:INTRON

Gene Symbol:TMEM272
Accession:XM_047430280
Location:INTRON

Gene Symbol:TMEM272
Accession:NM_001351005
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000287848 CLINVAR
dbSNP (RS) rs371788814 CLINVAR
MedGen C0019202 CLINVAR
NCBI Gene ATP7B CLINVAR
  TMEM272 CLINVAR
OMIM 277900 CLINVAR
  606882 CLINVAR
SNOMED CT 88518009 CLINVAR