Variant #0000800986 (NC_000003.11:g.130714956G>A, NC_000003.11(NM_001001486.1):c.2126+1G>A (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.130714956G>A
DNA change (hg38) -
Published as ATP2C1(NM_001199179.1):c.2126+1G>A
ISCN -
DB-ID ATP2C1_000100 See all 3 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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP2C1 NM_001001486.1 +/. - c.2126+1G>A r.spl? p.?
ASTE1 NM_014065.2 +/. - c.*17945C>T r.(=) p.(=)


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