Variant #0000873621 (NC_000019.9:g.15302978C>T, NOTCH3(NM_000435.2):c.472G>A)
Individual ID |
00414460 |
Chromosome |
19 |
Allele |
Unknown |
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.15302978C>T |
DNA change (hg38) |
g.15192167C>T |
Published as |
NOTCH3(NM_000435.2):c.472G>A(p.D158N) |
ISCN |
- |
DB-ID |
NOTCH3_000401 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Sun 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
? |
Frequency |
227 |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2022-07-28 13:16:36 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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