Variant #0000608325 (NC_000003.11:g.130711841_130711843del, NM_001001486.1:c.1886_1888del (ATP2C1))

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.130711841_130711843del
DNA change (hg38) g.130992997_130992999del
Published as ATP2C1(NM_001199179.3):c.1886_1888delTTA (p.I629del)
ISCN -
DB-ID ASTE1_000008
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2019-12-04 14:54:23 +01:00 (CET)
Date last edited 2021-09-17 14:40:49 +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.1886_1888del r.(?) p.(Ile629del)
ASTE1 NM_014065.2 ?/. - c.*21062_*21064del r.(=) p.(=)


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