Variant #0000085680 (NC_000003.11:g.0, NM_001001486.1:c.0 (ATP2C1))

Individual ID 00055712
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.0
DNA change (hg38) -
Published as -
ISCN -
DB-ID ATP2C1_000099
Variant remarks 2.5 Mb deletion
Variant Error [ESYNTAX]: This genomic variant has an error (char 17: end of input). Please fix this entry and then remove this message.
Reference PubMed: Hu 2000
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 2012-01-22 14:47:22 +01:00 (CET)
Date last edited 2012-01-22 14:47:57 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. _1_28_ c.0 r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055665 DNA PFGE - - ATP2C1 1 Johan den Dunnen


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