Variant #0000987335 (NC_000003.11:g.(?_100945825)_(101039216_?)del, NM_016247.3:c.(?_1)_(3714_?)del (IMPG2))
Individual ID |
00451269 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_100945825)_(101039216_?)del |
DNA change (hg38) |
- |
Published as |
c.1_3714del |
ISCN |
- |
DB-ID |
IMPG2_000181 |
Variant remarks |
no variant 2nd chromosome, case unsolved |
Reference |
PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 |
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 |
2024-05-31 11:39:36 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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