Variant #0000666048 (NC_000001.10:g.?, NM_001364012.1:c.(-164_-126)insN[(270_540)] (NOTCH2NLC))
Individual ID |
00301578 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.? |
DNA change (hg38) |
g.(149390803_149390841)ins(270_540) |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH2NLC_000110 See all 28 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ishiura 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
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 |
2020-05-19 08:33:30 +02:00 (CEST) |
Date last edited |
2021-12-15 17:06:51 +01:00 (CET) |
Variant on transcripts
Screenings
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