Variant #0000667752 (NC_000023.10:g.71684409C>T, HDAC8(NM_018486.2):c.910G>A)

Individual ID 00303196
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.71684409C>T
DNA change (hg38) g.72464559C>T
Published as -
ISCN -
DB-ID HDAC8_000043
Variant remarks -
Reference PubMed: Kaiser 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation skewed X-inactivation (3:97)
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-08 09:10:42 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC8 NM_018486.2 +/. 8 c.910G>A r.(?) p.(Gly304Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304321 DNA SEQ - - HDAC8 1 Johan den Dunnen