Variant #0000658512 (NC_000019.9:g.15302941T>C, NOTCH3(NM_000435.2):c.509A>G)
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.15302941T>C |
DNA change (hg38) |
g.15192130T>C |
Published as |
NOTCH3(NM_000435.2):c.509A>G (p.(His170Arg)), NOTCH3(NM_000435.3):c.509A>G (p.H170R) |
ISCN |
- |
DB-ID |
NOTCH3_000173 See all 5 reported entries |
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) |
0.00181 View details |
Owner |
VKGL-NL_Utrecht |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Utrecht |
Date created |
2020-03-23 16:13:27 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
|
|