RGD:8558794 Rat Genome Database

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Variant: RGD:8558794 -  Homo sapiens

RGD ID: 8558794
RS ID: rs1559982055
ClinVar ID: CV20624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP2C1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 130,682,814
GRCh38 3 130,963,970
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000003.11:g.130682814G>A
NG_007379.2:g.118446G>A
NM_001001486.2:c.900-1G>A
NC_000003.12:g.130963970G>A
More... 		03/20/2013 splice acceptor variant pathogenic adulthood Hailey Hailey disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP2C1
Accession:NM_001378514
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199180
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199183
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199181
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_014382
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378511
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378512
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447965
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447962
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199182
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001001486
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378687
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447960
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447966
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447963
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199184
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001378513
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199185
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_011512686
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001001487
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001199179
Location:INTRON

Gene Symbol:ATP2C1
Accession:NM_001001485
Location:INTRON

Gene Symbol:ATP2C1
Accession:XM_047447961
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10767338  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000005927 CLINVAR
dbSNP (RS) rs1559982055 CLINVAR
MedGen C0085106 CLINVAR
NCBI Gene ATP2C1 CLINVAR
OMIM 169600 CLINVAR
  604384 CLINVAR
OMIM Allele 604384.0005 CLINVAR
SNOMED CT 79468000 CLINVAR