Variant #0000081538 (NC_000019.9:g.15308362C>T, NOTCH3(NM_000435.2):c.146G>A)
Individual ID |
00052149 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15308362C>T |
DNA change (hg38) |
g.15197551C>T |
Published as |
- |
ISCN |
- |
DB-ID |
NOTCH3_000017 |
Variant remarks |
- |
Reference |
PubMed: Joutel 1997 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
No license selected |
Created by |
Elles Boon |
Date created |
2007-01-05 16:45:02 +01:00 (CET) |
Date last edited |
2016-11-16 21:19:08 +01:00 (CET) |

Variant on transcripts
Screenings
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