Variant #0000071893 (NC_000023.10:g.71684459C>T, HDAC8(NM_018486.2):c.860G>A)

Individual ID 00043833
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.71684459C>T
DNA change (hg38) g.72464609C>T
Published as -
ISCN -
DB-ID HDAC8_000012
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC8 NM_018486.2 +?/. 8 c.860G>A r.(?) p.(Cys287Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000044078 DNA SEQ-NG-IT - - HDAC8 1 Ilaria Parenti