Variant #0000003051 (NC_000023.10:g.71791988dup, NC_000023.10(NM_018486.2):c.112-17dup (HDAC8))

Individual ID 00000208
Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.71791988dup
DNA change (hg38) g.72572138dup
Published as -
ISCN -
DB-ID HDAC8_000005
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
Date created 2012-09-13 12:04:39 +02:00 (CEST)
Date last edited 2020-07-20 15:24:31 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HDAC8 NM_018486.2 -?/. 1i c.112-17dup r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000209 DNA SEQ-NG-I - - - 6369 Yu Sun


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