Variant #0000071885 (NC_000023.10:g.71715099A>G, HDAC8(NM_018486.2):c.457T>C)
Individual ID |
00043825 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.71715099A>G |
DNA change (hg38) |
g.72495249A>G |
Published as |
- |
ISCN |
- |
DB-ID |
HDAC8_000007 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Ilaria Parenti |
Database submission license |
No license selected |
Created by |
Ilaria Parenti |
Date created |
2015-06-24 13:46:30 +02:00 (CEST) |
Date last edited |
2015-07-05 11:22:57 +02:00 (CEST) |

Variant on transcripts
Screenings
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