Variant #0000729233 (NC_000023.10:g.79990696T>C, BRWD3(NM_153252.4):c.915A>G)
Chromosome |
X |
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.79990696T>C |
DNA change (hg38) |
- |
Published as |
BRWD3(NM_153252.5):c.915A>G (p.R305=) |
ISCN |
- |
DB-ID |
BRWD3_000097 |
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) |
7.0E-5 View details |
Owner |
VKGL-NL_Groningen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Groningen |
Date created |
2021-02-08 18:36:18 +01:00 (CET) |
Date last edited |
2021-09-17 14:40:49 +02:00 (CEST) |

Variant on transcripts
|
|