Variant #0000071892 (NC_000023.10:g.71684480G>A, HDAC8(NM_018486.2):c.839C>T)

Individual ID 00043832
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.71684480G>A
DNA change (hg38) g.72464630G>A
Published as -
ISCN -
DB-ID HDAC8_000011 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
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 14:13:07 +02:00 (CEST)
Date last edited 2015-07-05 11:33:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC8 NM_018486.2 +?/. 8 c.839C>T r.(?) p.(Thr280Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000044077 DNA SEQ-NG-I - - HDAC8 1 Ilaria Parenti