Variant #0000667406 (NC_000019.9:g.15303043A>C, NOTCH3(NM_000435.2):c.407T>G)
Individual ID |
00302889 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15303043A>C |
DNA change (hg38) |
g.15192232A>C |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH3_000368 |
Variant remarks |
ACMG grading: PM2 individual not affected at age 40y, father several strokes, not available for testing |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2020-06-03 15:07:02 +02:00 (CEST) |
Date last edited |
2020-06-11 08:34:29 +02:00 (CEST) |

Variant on transcripts
Screenings
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