Variant #0000608322 (NC_000003.11:g.130673922G>T, NM_001001486.1:c.754G>T (ATP2C1))

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.130673922G>T
DNA change (hg38) g.130955078G>T
Published as ATP2C1(NM_001199179.1):c.754G>T (p.E252*), ATP2C1(NM_014382.5):c.754G>T (p.E252*)
ISCN -
DB-ID ASTE1_000004 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2022-05-09 15:24:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. - c.754G>T r.(?) p.(Glu252Ter)
ASTE1 NM_014065.2 +/. - c.*58979C>A r.(=) p.(=)


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