Variant #0000169012 (NC_000023.10:g.(132766827_132834006)_(132986815_133043769)del, NC_000023.10(NM_004484.3):c.(337+43308_338-98612)_(1083_1413+28931)del (GPC3))
Individual ID |
00103759 |
Chromosome |
X |
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.(132766827_132834006)_(132986815_133043769)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
GPC3_000007 See all 2 reported entries |
Variant remarks |
152.8 kb deletion |
Reference |
PubMed: Magini 2016, Journal: Magini 2016 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2017-04-21 22:35:21 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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