Variant #0000081730 (NC_000019.9:g.15303221G>A, NOTCH3(NM_000435.2):c.307C>T)
Individual ID |
00052341 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Probably does not affect function |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15303221G>A |
DNA change (hg38) |
g.15192410G>A |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH3_000204 |
Variant remarks |
variant affects protein function but is not associated with phenotype CADASIL |
Reference |
PubMed: Rutten 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Martine van Belzen |
Database submission license |
No license selected |
Created by |
Elles Boon |
Date created |
2013-04-15 16:05:42 +02:00 (CEST) |
Date last edited |
2016-11-29 22:38:36 +01:00 (CET) |

Variant on transcripts
Screenings
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