Variant #0000085065 (NC_000003.11:g.130674960_130674963dup, NM_001001486.1:c.769_772dup (ATP2C1))

Individual ID 00055091
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.130674960_130674963dup
DNA change (hg38) g.130956116_130956119dup
Published as 767insertCCCT
ISCN -
DB-ID ATP2C1_000015
Variant remarks NM_014382.3
Reference PubMed: Hu 2000, OMIM:var0001
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 2012-01-21 21:51:09 +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 +/. 10 c.769_772dup r.(?) p.(Leu258Profs*42)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000055044 DNA SEQ - - ATP2C1 1 Michel van Geel


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