Variant #0000667758 (NC_000023.10:g.71681858T>C, HDAC8(NM_018486.2):c.1001A>G)
Individual ID |
00303202 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.71681858T>C |
DNA change (hg38) |
g.72462008T>C |
Published as |
- |
ISCN |
- |
DB-ID |
HDAC8_000041 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Deardorff 2012, PubMed: Kaiser 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-06-08 09:10:42 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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