Variant #0001010102 (NC_000003.11:g.130653560G>T, NC_000003.11(NM_001001486.1):c.324+5G>T (ATP2C1))
Individual ID |
00454812 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.130653560G>T |
DNA change (hg38) |
g.130934716G>T |
Published as |
- |
ISCN |
- |
DB-ID |
ATP2C1_000197 |
Variant remarks |
variant results in exon 4 skipping |
Reference |
Debeuf et al, submitted |
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 International |
Created by |
Michel van Geel |
Date created |
2024-09-27 18:32:10 +02:00 (CEST) |
Date last edited |
2024-09-30 14:07:10 +02:00 (CEST) |

Variant on transcripts
Screenings
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