Variant #0000085137 (NC_000003.11:g.130682919T>C, NM_001001486.1:c.1004T>C (ATP2C1))

Individual ID 00055163
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.130682919T>C
DNA change (hg38) g.130964075T>C
Published as -
ISCN -
DB-ID ATP2C1_000076
Variant remarks Not found in 100 controls
Reference PubMed: Ma 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 2011-10-21 19:20:17 +02:00 (CEST)
Date last edited 2016-02-20 14:15:36 +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 +/. 12 c.1004T>C r.(?) p.(Leu335Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055116 DNA SEQ - - ATP2C1 1 Michel van Geel


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