Variant #0000164578 (NC_000023.10:g.71791958G>A, NM_018486.2:c.113C>T (HDAC8))
Individual ID |
00101389 |
Chromosome |
X |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.71791958G>A |
DNA change (hg38) |
g.72572108G>A |
Published as |
- |
ISCN |
- |
DB-ID |
HDAC8_000018 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Wenjuan Qiu |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Wenjuan Qiu |
Date created |
2017-03-29 08:19:11 +02:00 (CEST) |
Date last edited |
2017-03-29 08:50:52 +02:00 (CEST) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|