Variant #0000566426 (NC_000019.9:g.15302965C>T, NOTCH3(NM_000435.2):c.485G>A)
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15302965C>T |
DNA change (hg38) |
g.15192154C>T |
Published as |
NOTCH3(NM_000435.2):c.485G>A (p.(Cys162Tyr)) |
ISCN |
- |
DB-ID |
NOTCH3_000343 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2022-05-09 15:51:19 +02:00 (CEST) |

Variant on transcripts
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