Variant #0000487505 (NC_000001.10:g.?, NM_001364012.1:c.(-164_-126)insN[(561_633)] (NOTCH2NLC))
Individual ID |
00240394 |
Chromosome |
1 |
Allele |
Parent #1 |
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.? |
DNA change (hg38) |
g.(149390803_149390841)ins(561_633) |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH2NLC_000001 See all 9 reported entries |
Variant remarks |
- |
Reference |
PubMed: Tian 2019, Journal: Tian 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-06-19 16:26:03 +02:00 (CEST) |
Date last edited |
2021-12-15 17:09:11 +01:00 (CET) |
Variant on transcripts
Screenings
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