Variant #0000089866 (NC_000003.11:g.130650928G>A, NM_001001486.1:c.180G>A (ATP2C1))

Individual ID 00059100
Chromosome 3
Allele Unknown
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.130650928G>A
DNA change (hg38) g.130932084G>A
Published as c.683A>G
ISCN -
DB-ID ATP2C1_000174
Variant remarks -
Reference PubMed: Tian 2013
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Michel van Geel
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Michel van Geel
Date created 2016-02-21 17:41:22 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. 3 c.180G>A r.(?) p.(Trp60*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000059067 DNA SEQ - - ATP2C1 1 Michel van Geel


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