Variant #0000222170 (NC_000001.10:g.197073385_197073389dup, NM_018136.4:c.4994_4998dup (ASPM))
Individual ID |
00132143 |
Chromosome |
1 |
Allele |
Both (homozygous) |
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.197073385_197073389dup |
DNA change (hg38) |
g.197104255_197104259dup |
Published as |
4992_4996dup |
ISCN |
- |
DB-ID |
ASPM_000018 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Letard 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nathalie Pouvreau |
Database submission license |
No license selected |
Created by |
Nathalie Pouvreau |
Date created |
2017-10-24 08:49:22 +02:00 (CEST) |
Date last edited |
2023-03-07 17:32:05 +01:00 (CET) |

Variant on transcripts
Screenings
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