Variant #0000085733 (NC_000003.11:g.130672794A>C, NM_001001486.1:c.661A>C (ATP2C1))

Individual ID 00055765
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.130672794A>C
DNA change (hg38) g.130953950A>C
Published as 853A>C
ISCN -
DB-ID ATP2C1_000135
Variant remarks -
Reference PubMed: Luo 2011
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 2012-02-18 20:44:42 +01:00 (CET)
Date last edited 2016-02-20 14:01:15 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. 8 c.661A>C r.(?) p.(Thr221Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055718 DNA SEQ - - ATP2C1 1 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.