Variant #0000079395 (NC_000023.10:g.71708853G>A, HDAC8(NM_018486.2):c.667C>T)

Individual ID 00050470
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.71708853G>A
DNA change (hg38) g.72489003G>A
Published as -
ISCN -
DB-ID HDAC8_000016 See all 2 reported entries
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2015-09-27 16:16:40 +02:00 (CEST)
Date last edited 2020-07-20 15:23:37 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC8 NM_018486.2 ./. - c.667C>T r.(?) p.(Arg223Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050415 DNA SEQ;SEQ-NG-I - - HDAC8 1 Johan den Dunnen