Variant #0000085810 (NC_000003.11:g.130650864A>G, NC_000003.11(NM_001001486.1):c.118-2A>G (ATP2C1))

Individual ID 00055842
Chromosome 3
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.130650864A>G
DNA change (hg38) g.130932020A>G
Published as -
ISCN -
DB-ID ATP2C1_000141
Variant remarks -
Reference PubMed: Li 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Date created 2013-03-08 22:09:15 +01:00 (CET)
Date last edited 2016-02-21 15:46:57 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. 2i c.118-2A>G r.spl p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055795 DNA SEQ - - ATP2C1 1 Johan den Dunnen


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