Variant #0000017199 (NC_000023.10:g.15863501C>A, AP1S2(NM_003916.3):c.426+1G>T)
Individual ID |
00000406 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15863501C>A |
DNA change (hg38) |
g.15845378C>A |
Published as |
- |
ISCN |
- |
DB-ID |
AP1S2_000010 |
Variant remarks |
- |
Reference |
PubMed: Cacciagli 2014, OMIM:var0006 |
ClinVar ID |
- |
dbSNP ID |
rs587777542 |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Laurent Villard |
Database submission license |
No license selected |
Created by |
Laurent Villard |
Date created |
2013-04-08 12:02:25 +02:00 (CEST) |
Date last edited |
2014-12-12 16:29:00 +01:00 (CET) |

Variant on transcripts
Screenings
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